Gene Summary

Name:
activin receptor IIB
Synonyms:
ActRIIB

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Acvr2btm1.1(KOMP)Vlcg HOM   Early adult 0.00
enlarged kidney Acvr2btm1.1(KOMP)Vlcg HET Early adult 0.00
polycystic kidney Acvr2btm1.1(KOMP)Vlcg HET Early adult 0.00
abnormal kidney morphology Acvr2btm1.1(KOMP)Vlcg HET Early adult 0.00
preweaning lethality, complete penetrance Acvr2btm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Quadriceps N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Trigeminal V nerve N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Central nervous system ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Embryo N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Skeleton N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Embryo LacZ

LacZ images wholemount

50 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Adult LacZ

LacZ Images Section

5 Images

Human diseases caused by Acvr2b 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.

The table below shows human diseases associated to Acvr2b by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751

The table below shows human diseases predicted to be associated to Acvr2b by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Cervical Vertebral Dysplasia
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... OMIM:118005
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Right Atrial Isomerism
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Dextrocardia... OMIM:208530
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Unilateral renal agenesis, Short thorax, Anomalous origin of left coronary artery ... OMIM:618845
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right a... OMIM:306955
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Absence of the sacrum, Right atrial isomerism, Ascending... OMIM:270100
Congenital Absence Of Upper Arm And Forearm With Hand Present
Stillbirth, Abnormality of the vertebral column, Renal agenesis, Abnormal lung morphology, Congen... ORPHA:294975
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Tricuspid Atresia
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ... ORPHA:1209
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
11 pairs of ribs, Unilateral renal agenesis, Chronic kidney disease, Narrow chest, Hemivertebrae,... OMIM:617661
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... OMIM:613751
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... OMIM:605376
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Situs inversus totalis, Dextrocardia, Spina bifida occulta,... OMIM:613686
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Heterotaxy, Visceral, 7, Autosomal
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... OMIM:616749
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Isomerism, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Sacr... OMIM:314390
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Narrow chest, Abnormal form of the vertebral bodies, Abnorma... ORPHA:1354
Poland Syndrome
Dextrocardia, Hemivertebrae, Short ribs, Sprengel anomaly, Rib fusion OMIM:173800
Bardet-Biedl Syndrome 19
Renal insufficiency, Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Pat... OMIM:615996
Meacham Syndrome
Enlarged kidney, Bicuspid aortic valve, Congenital alveolar dysplasia, Transposition of the great... OMIM:608978
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia, Cervical ribs ORPHA:66630
Vertebral Hypoplasia With Lumbar Kyphosis
Vertebral hypoplasia, Lumbar kyphosis OMIM:192900
Diabetic Embryopathy
Transposition of the great arteries, Ureteral duplication, Renal hypoplasia/aplasia, Abnormal sac... ORPHA:1926
Dextrocardia
Abnormal lung lobation, Situs inversus totalis, Dextrocardia, Abnormal renal morphology, Pancreat... ORPHA:1666
Heterotaxy, Visceral, 6, Autosomal
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... OMIM:614779
16P13.11 Microduplication Syndrome
Transposition of the great arteries, Pectus excavatum, Coarctation of aorta, Tetralogy of Fallot,... ORPHA:261243
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Hepatomegaly, Abnorm... ORPHA:860
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Recurrent lower respiratory tract infections, Dextrocardia, Bronch... OMIM:618254
Genitopalatocardiac Syndrome
Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri... OMIM:231060
Meacham Syndrome
Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o... ORPHA:3097
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst OMIM:615987
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hypoplastic left heart OMIM:236110
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Coronary sinus enlargement, Dysplastic tricuspid valve, Accessory sp... OMIM:618280
Congenital Heart Defects, Multiple Types, 6
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... OMIM:613854
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hepatosplenomegaly, Hyperechogenic kidne... OMIM:619902
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ... OMIM:613496
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Primary Basilar Invagination
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine ORPHA:2285
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Cutis marmorata, Splenomegaly, Hepatic... OMIM:616589
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Microphthalmia, Syndromic 9
Multilobulated spleen, Right aortic arch with mirror image branching, Pulmonic stenosis, Renal ma... OMIM:601186
Hadziselimovic Syndrome
Ventricular hypertrophy, Pulmonary artery atresia, Renal hypoplasia, Tetralogy of Fallot, Atrial ... OMIM:612946
Primary Ciliary Dyskinesia
Situs inversus totalis, Transposition of the great arteries, Atelectasis, Pulmonary situs ambiguu... ORPHA:244
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Fetal Trimethadione Syndrome
Transposition of the great arteries, Hypospadias, Scoliosis, Tetralogy of Fallot, Atrial septal d... ORPHA:1913
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at... OMIM:606217
22Q11.2 Duplication Syndrome
Transposition of the great arteries, Interrupted aortic arch, Scoliosis, Hydronephrosis, Tetralog... ORPHA:1727
Alagille Syndrome 2
Cholestatic liver disease, Hematuria, Renal tubular acidosis, Renal insufficiency, Cholestasis, R... OMIM:610205
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Conotruncal Heart Malformations
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... OMIM:217095
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615482
Atrial Septal Defect 2
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... OMIM:607941
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Abnormal heart morphology, Interrupte... ORPHA:185
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia, Missing ribs ORPHA:1759
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis OMIM:601355
Even-Plus Syndrome
Recurrent urinary tract infections, Patent foramen ovale, Vesicoureteral reflux, Vertebral clefti... OMIM:616854
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Patent foramen ovale, Scoliosis, Renal hypoplasia, Coarctation of aort... OMIM:618494
Heterotaxy, Visceral, 8, Autosomal
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... OMIM:617205
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Congenital Disorder Of Glycosylation, Type Iiaa
Hepatomegaly, Unilateral renal agenesis, Narrow chest, Cholestasis, Biliary cirrhosis, Patent duc... OMIM:620454
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,... ORPHA:216694
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Ventricular septal defect, Crossed fused renal ectopia, Patent ductus ... OMIM:618142
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ven... OMIM:619657
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck, Recurre... OMIM:608681
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Ciliary Dyskinesia, Primary, 52
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Recurrent ... OMIM:620570
Intellectual Developmental Disorder, Autosomal Dominant 66
Transposition of the great arteries, Aortic root aneurysm, Pectus carinatum, Scoliosis, Pectus ex... OMIM:619910
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Splenomegaly OMIM:615285
Congenital Heart Defects, Multiple Types, 9
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... OMIM:620294
Proximal 16P11.2 Microdeletion Syndrome
Abnormal aortic valve morphology, Abnormal vertebral morphology, Dextrocardia, Scoliosis, Abnorma... ORPHA:261197
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Heterotaxy, Visceral, 12, Autosomal
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ... OMIM:619702
Congenital Disorder Of Glycosylation, Type Iil
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... OMIM:614576
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreat... OMIM:263200
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Renal hypoplasia/aplasia, Dextrocardia, Patent ductus arteriosus ORPHA:2863
Mosaic Trisomy 9
Abnormal lung lobation, Dextrocardia, Abnormal liver lobulation, Hypoplasia of penis, Abnormal he... ORPHA:99776
Vacterl Association With Hydrocephalus
Stillbirth, Abnormal vertebral morphology, Abnormality of the vertebral column, Renal hypoplasia,... OMIM:276950
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Hypoplastic aortic arch, Scoliosis, Pectus excavatum, Kyphosis, Hydron... OMIM:620511
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... ORPHA:3384
Emanuel Syndrome
Sacral dimple, Unilateral renal agenesis, Recurrent respiratory infections, Recurrent urinary tra... OMIM:609029
Eng-Strom Syndrome
Scoliosis, Ventricular septal defect, Pectus excavatum, Abnormal cardiac septum morphology ORPHA:1937
Verheij Syndrome
Scoliosis, Hemivertebrae, Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Short... OMIM:615583
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Primary Pulmonary Hypoplasia
Pneumothorax, Cyanosis, Dextrocardia, Ureteral stenosis, Hypoxemia, Secundum atrial septal defect... ORPHA:2257
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries, Polycystic ovaries ORPHA:90301
8P23.1 Microdeletion Syndrome
Atrioventricular canal defect, Transposition of the great arteries, Hypospadias, Enlarged thorax,... ORPHA:251071
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Heart Defects, Congenital, And Other Congenital Anomalies
Cervical ribs, Perimembranous ventricular septal defect, Transposition of the great arteries, Tot... OMIM:600001
Prune Belly Syndrome
Hydroureter, Recurrent respiratory infections, Renal insufficiency, Abnormality of the bladder, R... ORPHA:2970
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Situs inversus totalis, Jaundice, Hepatomegaly, Dextrocardia, Polycystic kidney dysplasia, Recurr... OMIM:613095
Acrodysplasia Scoliosis
Scoliosis, Vertebral segmentation defect, Spina bifida occulta ORPHA:2956
Emanuel Syndrome
Kyphoscoliosis, Sacral dimple, Unilateral renal agenesis, Recurrent respiratory infections, Scoli... ORPHA:96170
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Criss-Cross Heart
Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi... ORPHA:1461
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia, Hepatomegaly OMIM:614859
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hepatomegaly, Nephrotic syndrome... ORPHA:85445
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, 11 pairs of ribs, ... OMIM:617877
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Megabladder, Congenital
Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non... OMIM:618719
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Narrow chest, Periportal fibrosis, Short thorax, Patent foramen ovale,... OMIM:269860
Cardiac Diverticulum
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl... ORPHA:1686
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Scoliosis, Vertebral segmentat... ORPHA:1988
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... ORPHA:99050
Interstitial Pneumonitis, Desquamative, Familial
Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Recurrent upper respiratory tract in... OMIM:263000
Cenani-Lenz Syndactyly Syndrome
Ectopic kidney, Scoliosis, Hemivertebrae, Pectus excavatum, Pulmonic stenosis, Renal hypoplasia, ... OMIM:212780
Burn-Mckeown Syndrome
Renal hypoplasia, Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis OMIM:608572
Braddock Syndrome
Unilateral renal agenesis, Scoliosis, Hemivertebrae, Pectus excavatum, Missing ribs, Pulmonary fi... ORPHA:52047
Spondylosis, Cervical
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta OMIM:184300
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Dextrocardia, Bronchiectasis, Recurrent respiratory infections, Ventricul... OMIM:616037
Carpenter Syndrome 1
Transposition of the great arteries, Sacral dimple, Hydroureter, Spina bifida occulta, Scoliosis,... OMIM:201000
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the bladder, Posterior rib fusion, Dysplastic tricuspid valve, Bicuspid aortic valv... OMIM:265380
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Abnormal mesentery morphology, Hypoplasia of penis ORPHA:2256
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplasia of right ventricle, Cervical ribs, Transposition of the great arteries, Double outlet ... ORPHA:2255
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Abnormal renal morphology, Patent foramen ovale, Vesicoureteral reflux,... OMIM:609053
Isolated Klippel-Feil Syndrome
Renal hypoplasia/aplasia, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormal... ORPHA:2345
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Scoliosis, Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity... OMIM:611555
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Poland Syndrome
Renal hypoplasia/aplasia, Asymmetry of the thorax, Abnormal sternum morphology, Pectus carinatum,... ORPHA:2911
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Hemivertebrae, Renal agenesis, Renal hypoplasi... OMIM:264480
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Muscular ventricular septal defect, Fused cervical vertebrae, Unilateral ren... OMIM:619227
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ... ORPHA:363444
Ciliary Dyskinesia, Primary, 17
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:614679
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Marden-Walker Syndrome
Dextrocardia, Hypospadias, Abnormal sternum morphology, Scoliosis, Kyphosis, Renal hypoplasia, Pu... OMIM:248700
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Abnormality of the vertebral column, Abnormal rib morp... OMIM:601076
Bardet-Biedl Syndrome 16
Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615993
Inverted Duplicated Chromosome 15 Syndrome
Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis ORPHA:3306
Orofaciodigital Syndrome Xvii
Short neck, Tetralogy of Fallot, Renal hypoplasia, Micropenis OMIM:617926
Alagille Syndrome 1
Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice... OMIM:118450
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Situs inversus totalis, Recurrent pneumonia, Dextrocardia OMIM:611884
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect, Micropenis, Unilateral renal agenesis OMIM:618504
Combined Oxidative Phosphorylation Deficiency 11
Decreased liver function, Stillbirth, Hepatomegaly, Renal tubular acidosis, Renal insufficiency, ... OMIM:614922
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Shashi-Pena Syndrome
Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Sco... OMIM:617190
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Thoracolumbar scoliosis, Renal hypoplasia, Sprengel anomaly, Cervical ribs,... OMIM:601389
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Beaulieu-Boycott-Innes Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Patent ductus arteriosus, Ventricu... OMIM:613680
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, 11 pairs of ribs, Hypospadias, Polycystic kidney dysplasia, Short cla... ORPHA:2044
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Stillbirth, Hepatomegaly, Enlarged kidney, Truncu... OMIM:615415
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Howell-Jolly bodies, Portal inflammation, Pulmonary artery atresia, Elevated circulating alanine ... OMIM:613759
Global Developmental Delay With Or Without Impaired Intellectual Development
Hypospadias, Pulmonary sequestration, Pectus excavatum, Patent ductus arteriosus, Atrial septal d... OMIM:618330
Developmental And Epileptic Encephalopathy 66
Anemia, Dextrocardia, Atrial septal defect, Ventricular septal defect, Neutropenia OMIM:618067
Ciliary Dyskinesia, Primary, 37
Bronchiectasis, Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot OMIM:601127
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Recurrent respiratory infections OMIM:253300
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Transaldolase Deficiency
Abnormality of the kidney, Cirrhosis, Anemia, Premature skin wrinkling, Coarctation of aorta, Hep... ORPHA:101028
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Mediastinal lymphadenopathy, Atel... ORPHA:2302
Catel-Manzke Syndrome
Scoliosis, Atrial septal defect, Ventricular septal defect, Pectus excavatum ORPHA:1388
Ventricular Septal Defect 1
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... OMIM:614429
Congenital Total Pulmonary Venous Return Anomaly
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... ORPHA:99125
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Giant platelets, Anemia, Hemolytic-uremic syndrome, Hypospad... OMIM:611209
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal... ORPHA:1909
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormality of the kidney, Cervical C2/C3 vertebral fusion, Unilateral renal agenesis, Scoliosis,... OMIM:118100
Ellis Van Creveld Syndrome
Acute leukemia, Situs inversus totalis, Epispadias, Atrioventricular canal defect, Hydroureter, D... ORPHA:289
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Scoliosis, Vesicoureteral reflux, Ky... OMIM:619951
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Hypospadias, Renal agenesis, Pulmonary hypop... OMIM:313850
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Short neck, Patent foramen ovale, Transposition of the great arteries OMIM:616789
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Situs inversus totalis, Dextrocardia OMIM:618063
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Macrocytic anemia, Coronary artery fistula, Dilatation of renal calices, Pectus exc... OMIM:614294
Marden-Walker Syndrome
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavat... ORPHA:2461
Holt-Oram Syndrome
Abnormal clavicle morphology, Atrioventricular canal defect, Scoliosis, Abnormal aortic morpholog... ORPHA:392
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Unilateral renal agenesis, Abnormal cardiac septum morphology, Short clavicles, Scoli... OMIM:308050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Hepatomegaly, Nephronophthisis, Bell-shaped thorax, Short ribs, Cholestasi... OMIM:615630
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Pulmonary artery stenosis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect ORPHA:75389
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kyphoscoliosis, Increased vertebral height, Abnormal vertebral morphology, Hyperlordosis, Pectus ... OMIM:616817
Nemaline Myopathy 9
Scoliosis, Ventricular septal defect, Narrow chest OMIM:615731
Fanconi Anemia, Complementation Group N
Aplastic anemia, Acute myeloid leukemia, Ectopic kidney, Unilateral renal agenesis, Pelvic kidney... OMIM:610832
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Butterfly vertebrae, Vesicoureteral reflux, Aortic valve stenosis, Renal hypoplasia, Mitral steno... OMIM:617660
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Syndromic Diarrhea
Cirrhosis, Hepatomegaly, Thrombocytosis, Polycystic kidney dysplasia, Lymphopenia, Hepatic fibros... ORPHA:84064
Jeune Syndrome
Abnormal clavicle morphology, Nephronophthisis, Narrow chest, Short thorax, Abnormal sternum morp... ORPHA:474
Distal Duplication 6P
Abnormal lung lobation, Sacral dimple, Long thorax, Renal hypoplasia, Hydronephrosis, Short neck,... ORPHA:1745
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Tetralogy of Fallot, Hypospadias, Abnormal rib morphology ORPHA:276422
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Pectus carinatum, Renal agenesis, Renal hypoplasia, Patent ductus arteriosus, Microp... ORPHA:171839
Ehlers-Danlos Syndrome, Classic-Like, 1
Unilateral renal agenesis, Quadricuspid aortic valve, Vesicoureteral reflux, Mitral valve prolaps... OMIM:606408
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Vertebral segmentation defect, Abnormal aortic morphology, Vesicoureter... ORPHA:1166
Coach Syndrome 1
Cirrhosis, Hepatomegaly, Vascular dilatation, Nephronophthisis, Unilateral renal agenesis, Elevat... OMIM:216360
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Pleural effusion, Pulmonic stenosis, Splenomegaly, Cyanosis ORPHA:2414
Fanconi Anemia, Complementation Group F
Sacral dimple, Anemia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Bone marrow hypocellul... OMIM:603467
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor... OMIM:620642
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Anemia, Unilateral renal agenesis, Pancytopenia, Aortic root aneurysm, Pectus carinatum, Ventricu... OMIM:620654
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Narrow chest, Splenic cyst, Stroke, Short ribs, Fract... OMIM:618188
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory ... OMIM:615444
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Abnormality of the urinary system, Scoliosis, Pectus excavatum, Abnormal heart morp... ORPHA:96092
Pallister-Hall Syndrome
Abnormal lung lobation, Hydroureter, Ectopic kidney, Hemivertebrae, Renal cyst, Rib fusion, Predu... OMIM:146510
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Becker Nevus Syndrome
Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Supernumerary ribs... ORPHA:64755
Pentalogy Of Cantrell
Hypospadias, Abnormal sternum morphology, Scoliosis, Renal dysplasia, Renal agenesis, Abnormal pe... ORPHA:1335
Thakker-Donnai Syndrome
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Hemivertebrae, Hydronephros... ORPHA:1780
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Cutis marmorata, Secundum atrial septal defect, Recurrent respiratory infection... OMIM:619758
Floating-Harbor Syndrome
Kyphoscoliosis, Mesocardia, 11 pairs of ribs, Hypospadias, Glandular hypospadias, Short clavicles... OMIM:136140
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentratio... OMIM:614876
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology ORPHA:3268
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Atelectasis, Dextrocardia, Persistent left superior vena cava, Aortic val... OMIM:615067
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Abnormal sternum morphology, Scoliosis, Pulmonic stenosis... OMIM:616737
Czeizel-Losonci Syndrome
Dextrocardia, Congenital megaureter, Spina bifida occulta, Thoracolumbar scoliosis, Ureteral agen... ORPHA:2437
Wolf-Hirschhorn Syndrome
Abnormality of the kidney, Abnormal thorax morphology, Abnormality of the gallbladder, Sacral dim... ORPHA:280
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Bifid ribs, Unilateral renal agenesis, Narrow chest, ... OMIM:213980
Adams-Oliver Syndrome 4
Cutis marmorata, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Scoliosis, Sacral dimple, Atrial septal defect, Ventricular septal defect OMIM:608227
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Hydronephrosis, ... OMIM:271520
Ritscher-Schinzel Syndrome 1
Hypospadias, Hemivertebrae, Missing ribs, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosi... OMIM:220210
Double Outlet Right Ventricle
Cyanosis, Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Aplasia/Hypoplasia of the thy... ORPHA:3426
Mayer-Rokitansky-K├╝ster-Hauser Syndrome
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Abnormal form of the verteb... ORPHA:3109
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Rena... OMIM:617478
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology, Abnormal mesentery morphology, Ab... ORPHA:93941
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Abdominal situs inversus OMIM:619607
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Neonatal death, Ureteral agenesis, Pulmonary hypoplasia... OMIM:236500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Pectus excavatum, Bicuspid aortic valve, Perimembranous ventricular septal defect, Hypospadias, P... ORPHA:508498
Bardet-Biedl Syndrome 17
Polyuria, Situs inversus totalis, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Micro... OMIM:615994
Autosomal Recessive Multiple Pterygium Syndrome
Abnormal aortic valve morphology, Spina bifida occulta, Aortic aneurysm, Hypoplasia of penis, Abn... ORPHA:2990
Lessel-Kubisch Syndrome
Premature graying of hair, Renal hypoplasia, Renal insufficiency OMIM:618681
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Situs inversus totalis, Recurrent respiratory infections, Dextrocardia OMIM:606763
Vater/Vacterl Association
Transposition of the great arteries, Abnormal vertebral morphology, Ectopic kidney, Hypospadias, ... OMIM:192350
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Reduced number of intrahepatic bile ducts, Megaloblastic anemia, Abnor... ORPHA:79284
Autosomal Recessive Robinow Syndrome
Sacral dimple, Abnormal tricuspid valve morphology, Recurrent respiratory infections, Hypoplasia ... ORPHA:1507
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria OMIM:619053
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Vertebra... ORPHA:1120
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return OMIM:106700
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Narrow chest, Polycystic kidney dysplasia, Short ribs, Renal cyst, Renal hypoplasia,... OMIM:614091
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Dilated... ORPHA:254913
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomegaly, Recurre... OMIM:252920
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hypospadias, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Rib fusion, ... OMIM:206900
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Anemia, Bell-shaped thorax, Narrow chest, Recurrent respiratory infections, Short r... ORPHA:1842
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst OMIM:614870
Duane-Radial Ray Syndrome
Renal malrotation, Fused cervical vertebrae, Vascular dilatation, Spina bifida occulta, Shoulder ... OMIM:607323
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem... OMIM:614377
Recombinant Chromosome 8 Syndrome
Scoliosis, Pectus excavatum, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductu... OMIM:179613
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology,... ORPHA:2516
Alagille Syndrome
Hepatomegaly, Renal hypoplasia/aplasia, Butterfly vertebral arch, Abnormal form of the vertebral ... ORPHA:52
3Q29 Microdeletion Syndrome
Hypospadias, Pectus carinatum, Pectus excavatum, Six lumbar vertebrae, Subvalvular aortic stenosi... ORPHA:65286
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Sacral dimple, Scoliosis, Dextrotransposition of the great arteries, Ventricular septal defect OMIM:619995
Zttk Syndrome
Cervical ribs, Polyuria, Unilateral renal agenesis, Scoliosis, Hemivertebrae, Kyphosis, Rib fusio... OMIM:617140
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Williams-Beuren Region Duplication Syndrome
Cutis marmorata, Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus OMIM:609757
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial s... ORPHA:401935
Johanson-Blizzard Syndrome
Anemia, Dextrocardia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Exocrine pancreatic insuf... ORPHA:2315
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Mesenteric cyst, Hypospadias, Recurrent respiratory infections, Patent fo... OMIM:618316
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Atrioventricular canal defect, Dextrocardia, Sprengel anomaly, Coarctation of aorta, Micropenis OMIM:618929
Pericardial And Diaphragmatic Defect
Abnormal sternum morphology, Pulmonary sequestration, Pectus excavatum, Hypoxemia, Mitral stenosi... ORPHA:2847
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Senior-Boichis Syndrome
Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Cholestasis,... ORPHA:84081
Diamond-Blackfan Anemia 11
Unilateral renal agenesis, Anemia of inadequate production, Bone marrow hypocellularity, Bicuspid... OMIM:614900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Hepatomegaly, Narrow chest, Renal hypoplasia, Thoracic dysp... OMIM:614376
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Renal cyst OMIM:615982
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Cystathioninuria, Homocystinuria, Megaloblastic... OMIM:277380
Acute Interstitial Pneumonia
Reduced hematocrit, Atelectasis, Lymphadenopathy, Pleural effusion, Bronchiectasis, Pericardial e... ORPHA:79126
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Anemia, Patent ductus arteriosus, 11 pairs of ribs, Accessory spleen, Elevated circulating hepati... OMIM:620005
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplasia of penis, Abnormal rib morphology, Hypoplastic left heart ORPHA:2772
Noonan Syndrome 12
11 pairs of ribs, Pectus excavatum, Spinal canal stenosis, Thrombocytopenia, Tetralogy of Fallot,... OMIM:618624
Ververi-Brady Syndrome
Scoliosis, Transposition of the great arteries OMIM:617982
Fadd-Related Immunodeficiency
Decreased liver function, Hepatic fibrosis, Ventricular septal defect, Pulmonary artery atresia ORPHA:306550
Bresek Syndrome
Scoliosis, Hemivertebrae, Vesicoureteral reflux, Hypoplasia of the bladder, Renal hypoplasia, Neo... ORPHA:85284
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, 11 pairs of ribs, Polycystic kidney dysplasia, Scoli... OMIM:134780
Pseudo-Torch Syndrome 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Thin ribs, Pleu... OMIM:617397
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, He... OMIM:606003
Congenital Rubella Syndrome
Jaundice, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Abnorma... ORPHA:290
Houge-Janssens Syndrome 2
Scoliosis, Unilateral renal agenesis, Pectus excavatum OMIM:616362
Congenital Heart Block
Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arteriosus, Cyanosis,... ORPHA:60041
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Hypertrophic cardiomyopathy ORPHA:91130
Robinow Syndrome
Kyphoscoliosis, Pulmonary valve atresia, Webbed penis, Tricuspid atresia, Multicystic kidney dysp... ORPHA:97360
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vascular dilatation, Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe ki... OMIM:617641
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Unilateral renal agenesis, Coronary artery fistula, Neonatal death, Patent ductus arteriosus, Atr... OMIM:620024
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:249670
Cardiac Valvular Dysplasia 1
Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,... OMIM:212093
Aortic Arch Interruption
Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Aortic valve atresia, Ao... ORPHA:2299
Leopard Syndrome 1
Kyphoscoliosis, Hypospadias, Spina bifida occulta, Unilateral renal agenesis, Pectus carinatum, S... OMIM:151100
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
Meckel Syndrome, Type 7
Situs inversus totalis, Multiple glomerular cysts, Multicystic kidney dysplasia, Cholestasis, Bil... OMIM:267010
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Hepatomegaly, Bell-shaped thorax, Thin ribs, Pulmonic stenosis, P... OMIM:608149
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Scoliosis, Asymmetric septal hypertrophy, Ovoid thoracolumbar vertebrae, Splenomega... OMIM:252900
Thanatophoric Dysplasia
Abnormality of the kidney, Patent ductus arteriosus, Narrow chest, Short thorax, Kyphosis, Pulmon... ORPHA:2655
Thiamine-Responsive Megaloblastic Anemia Syndrome
Situs inversus totalis, Stroke, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Atrial se... OMIM:249270
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Angiokeratoma corporis diffusum, Hepatomegaly, Abnormal heart valve ... OMIM:230500
1P36 Deletion Syndrome
Hypoplasia of penis, Kyphosis, Hepatic steatosis, Abnormal cardiac septum morphology, Telangiecta... ORPHA:1606
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... OMIM:615779
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Abnormal sternum morphology, Abnormality of the lymphatic... ORPHA:487796
Cockayne Syndrome Type 3
Premature graying of hair, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Premature corona... ORPHA:90324
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Abnormal rib morphology, Platyspondyly, Short neck, V... ORPHA:93267
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Intellectual Developmental Disorder, Autosomal Recessive 73
Scoliosis, Ventricular septal defect, Patent ductus arteriosus OMIM:619717
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Perching Syndrome
Scoliosis, Cyanosis OMIM:617055
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Ectopic kidney, Neonatal death, Ventricular septal defect, Cystic renal dysplasia OMIM:613730
Mungan Syndrome
Pulmonic stenosis, Renal hypoplasia, Perimembranous ventricular septal defect, Vesicoureteral reflux OMIM:611376
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Keratan sulfate excretion in... OMIM:253000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Spinal rigidity, Transposition of the great arteries, Scoliosis, Pulmonic stenosis, Myocardial fi... OMIM:253800
Chopra-Amiel-Gordon Syndrome
Scoliosis, Unilateral renal agenesis OMIM:619504
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Abnormal vertebral morp... ORPHA:210122
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn... OMIM:231680
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Scoliosis, Pectus excavatum, Kyphosis, Abn... ORPHA:464311
Thanatophoric Dysplasia Type 2
Abnormality of the kidney, Narrow chest, Short thorax, Kyphosis, Patent ductus arteriosus, Platys... ORPHA:93274
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Pectus carinatum, Pectus excavatum, Recurrent bronchopulmonary infections, Bone ... OMIM:617303
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal rib morpholo... ORPHA:377
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Pectus carinatum, Short ribs, Cardiomyopathy, Pectus excavatum, Pulmonic stenosi... OMIM:312870
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology DECIPHER:39
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... OMIM:617912
Restrictive Dermopathy
Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hypospadias, Thin clavic... ORPHA:1662
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra... ORPHA:93101
Vacterl/Vater Association
Abnormality of the gallbladder, Abnormality of the urethra, Abnormal intervertebral disk morpholo... ORPHA:887
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Coarctation of aorta, Leukopenia, Splenomegaly,... OMIM:620210
Polysyndactyly With Cardiac Malformation
Stillbirth, Renal cyst, Hepatic cysts, Atrial septal defect, Ventricular septal defect OMIM:263630
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect, Anemia OMIM:617408
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... ORPHA:3304
8Q24.3 Microdeletion Syndrome
Pectus excavatum, Abnormal heart morphology, Cervical ribs, Abnormality of the kidney, Pelvic kid... ORPHA:508488
Diamond-Blackfan Anemia 1
Hypoplastic coccygeal vertebrae, Macrocytic anemia, Hypoplastic sacral vertebrae, Congenital hypo... OMIM:105650
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale OMIM:618914
Trisomy 13
Abnormal lung lobation, Narrow chest, Scoliosis, Kyphosis, Abnormal rib morphology, Abnormality o... ORPHA:3378
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Lambert Syndrome
Jaundice, Hypospadias, Intrahepatic biliary atresia, Cholestasis, Ventricular septal defect ORPHA:1296
Weiss-Kruszka Syndrome
Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left... OMIM:618619
7Q11.23 Microduplication Syndrome
Sacral dimple, Hypospadias, Unilateral renal agenesis, Aortic aneurysm, Hemivertebrae, Pectus exc... ORPHA:96121
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentatio... ORPHA:1834
Noonan Syndrome 8
Patent ductus arteriosus, Palmoplantar cutis laxa, Abnormal sternum morphology, Pleural effusion,... OMIM:615355
Trisomy X
Renal hypoplasia/aplasia, Pectus excavatum, Atrial septal defect, Ventricular septal defect, Mult... ORPHA:3375
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short nec... OMIM:214300
Noonan Syndrome 11
Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Palmoplan... OMIM:618499
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Hepatomegaly, Asymmetric septal hypertrophy, Ovoid t... OMIM:252930
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Patent ductus arteriosus, Atria... ORPHA:2519
Distal Duplication 5Q
Ventricular septal defect, Hypospadias, Dextrocardia, Aplasia/Hypoplasia of the gallbladder ORPHA:96097
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Transposition of the great arteries, Hepatomegaly, Duplicated collecting system, Pectus excavatum... OMIM:280000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin... OMIM:208085
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Absence Of The Pulmonary Artery
Pulmonary edema, Recurrent respiratory infections, Patent foramen ovale, Truncus arteriosus, Abno... ORPHA:980
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic aciduria, Bell-shaped thorax, Normochromic anemia, Homocystinuria, Coarctation of a... OMIM:614857
Khan-Khan-Katsanis Syndrome
Sacral dimple, Anemia, Ureteral duplication, Patent foramen ovale, Scoliosis, Bilateral superior ... OMIM:618460
Coenzyme Q10 Deficiency, Primary, 7
Scoliosis, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Ventricular septal defect, Hypo... OMIM:616276
Li-Campeau Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, ... OMIM:619189
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Cyanosis, Abnormal tricuspid valve annulus morphology, Pa... ORPHA:555874
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Scoliosis, Pectus excavatum, Kyphosis, Abn... ORPHA:464306
3C Syndrome
Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Recurrent respir... ORPHA:7
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Hydronephrosis ORPHA:251076
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Digeorge Syndrome
Right aortic arch with mirror image branching, Recurrent sinusitis, Splenomegaly, Abnormal thymus... OMIM:188400
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... ORPHA:2470
Chime Syndrome
Acute leukemia, Pulmonary valve atresia, Abnormality of the kidney, Transposition of the great ar... ORPHA:3474
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia, Hepatomegaly, Splenomegaly OMIM:608776
Melnick-Needles Syndrome
Narrow chest, Short thorax, Short clavicles, Scoliosis, Vesicoureteral reflux, Abnormal rib morph... ORPHA:2484
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Scoliosis, Anterior rib cupping, Recurrent pneumonia, Thoracic hypoplasia, Splenome... OMIM:602271
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Re... OMIM:615633
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Bell-shaped thorax, Narrow chest, Short ribs, Renal cyst, Renal hypoplasia, Pulmonary... OMIM:616300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Mucopolysaccharidosis Type 6
Abnormal heart valve morphology, Kyphosis, Mucopolysacchariduria, Ovoid vertebral bodies, Splenom... ORPHA:583
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
Cornelia De Lange Syndrome 1
Pneumonia, Hypospadias, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal c... OMIM:122470
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Splenomegaly, Hepatic steatosis, Sacral dimple, Hypospadias, Patent du... OMIM:270400
Neurooculorenal Syndrome
Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Unilateral renal agenesis, Patent fora... OMIM:620305
Short Stature, Microcephaly, And Endocrine Dysfunction