Gene Summary

Name:
intraflagellar transport 88
Synonyms:
Tg737,  Oak Ridge polycystic kidneys,  orpk,  polaris,  IFT88,  fxo,  TgN737Rpw,  Tg737Rpw,  Ttc10

IMPC Data Collections

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
embryonic growth retardation Ift88tm1.1(KOMP)Vlcg HOM E9.5 0.00
preweaning lethality, complete penetrance Ift88tm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal embryo size Ift88tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo turning Ift88tm1.1(KOMP)Vlcg HOM E9.5 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
Adrenal gland  Section images heterozygote 100% (2 of 2)
Aorta  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 50% (1 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Liver  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Main olfactory bulb  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Pituitary gland  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Prostate gland N/A heterozygote Not available
Quadriceps N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote Not available
Vascular system N/A heterozygote 100% (2 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (1 of 1)
Brain N/A heterozygote 100% (1 of 1)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote Ambiguous
Footplate N/A heterozygote 100% (1 of 1)
Forebrain N/A heterozygote 100% (1 of 1)
Forelimb N/A heterozygote 100% (1 of 1)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (1 of 1)
Head N/A heterozygote 100% (1 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hindbrain N/A heterozygote 100% (1 of 1)
Hindlimb N/A heterozygote 100% (1 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (1 of 1)
Maxillary process N/A heterozygote 100% (1 of 1)
Midbrain N/A heterozygote Ambiguous
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 1)
Tail N/A heterozygote Not available

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
main olfactory bulb 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vascular system 0.0%
vesicular gland 0.0%
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)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Section

30 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

Embryo LacZ

LacZ images wholemount

4 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Sleep Wake

Wake state (bmp file)

1 Images

Combined SHIRPA and Dysmorphology

Images

3 Images

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

2 Images

Human diseases caused by Ift88 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 Ift88 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology ORPHA:791

The table below shows human diseases predicted to be associated to Ift88 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
RCAD (renal cysts and diabetes)
Multiple renal cysts, Abnormality of the liver DECIPHER:47
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Polydactyly, Postaxial, Type A10
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly OMIM:618498
Polydactyly, Postaxial, Type A6
Postaxial hand polydactyly, Broad phalanges of the 5th finger OMIM:615226
Polydactyly, Preaxial I
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... OMIM:174400
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Polydactyly, Postaxial, Type A9
Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618219
Nephronophthisis 13
Nephronophthisis, Mild proteinuria, Polydactyly, Hepatic cysts, Pancreatic cysts, Renal hypoplasi... OMIM:614377
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Postaxial hand polydactyly, Multinodular goiter, Preaxial foot polydactyly, Bilateral triphalange... OMIM:138790
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Malformation of the hepatic ductal plate, Multicystic ki... OMIM:607361
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Renal insufficiency, Tubulointerstitial fibrosis, Enlarged kidney, Hepatic cysts, Periportal fibr... OMIM:263200
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease, Bowing of the long bones, Polycystic kid... OMIM:211890
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida, Anomalous pulmonary venous return, Atrial septal defect, Preaxial hand polydactyly,... ORPHA:1120
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Postaxial hand polydactyly, Multinodular goiter, Preaxial foot polydactyly, Multicystic kidney dy... ORPHA:2091
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal lung morphology, Congenital malformation of the great arteries, Stillbirth, Abnormal hea... ORPHA:294975
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Hypertriglyceri... OMIM:614480
Campomelia, Cumming Type
Multiple renal cysts, Pancreatic cysts, Bowing of the long bones, Dolichocephaly, Multicystic kid... ORPHA:1318
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Short phalanx of finger, Metaphyseal irregularity, Conjugated hyperbilirubinemia, Pancreatic fibr... OMIM:208500
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Enlarged kidney, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Inte... OMIM:208540
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Periportal fibrosis, Abnormality of the urinary system, Postaxial polydactyly OMIM:213010
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Nephronophthisis 19
Nephronophthisis, Cholestasis, Hepatic fibrosis, Hepatomegaly, Stage 5 chronic kidney disease, Sp... OMIM:616217
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Tongue nodules, Polydactyly, Lobulated tongue, Alveolar ridge o... OMIM:311200
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Abnormality of the kidney, Elevated hepatic transa... ORPHA:369
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Broad thumb, Radioulnar synostosis, Vent... ORPHA:392
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the pancrea... ORPHA:3032
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Short distal phalanx of... OMIM:601355
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Intrauterine growth retardation, Pancreatic cysts, Cholestasis, Hepatic fibrosis, ... OMIM:610199
Orofaciodigital Syndrome Type 1
Open bite, Abnormal dental enamel morphology, Tarsal synostosis, Tongue nodules, Odontogenic neop... ORPHA:2750
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Hypoglycemia, Abnormal localization of kidney, Prol... ORPHA:446
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Broad thumb, Coarctation of aorta, Patent ductus arteriosus, Bi... OMIM:612474
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
Autosomal Dominant Polycystic Kidney Disease
Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, H... ORPHA:730
Meckel Syndrome, Type 7
Pancreatic cysts, Biliary cirrhosis, Cholestasis, Multicystic kidney dysplasia, Right ventricular... OMIM:267010
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Exocrine pancreatic insufficiency... ORPHA:552
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Biliary Atresia, Extrahepatic
Increased total bilirubin, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahe... OMIM:210500
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
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Truncus arteriosus, Short nose, Ventricular septal ... ORPHA:401935
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Leukoencephalopathy, Abnormal heart morph... OMIM:617744
Nephronophthisis 20
Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Preaxial Hallucal Polydactyly
Preaxial hand polydactyly, Preaxial foot polydactyly OMIM:601759
Senior-Loken Syndrome 8
Hepatic cysts, Nephronophthisis, Pancreatic cysts OMIM:616307
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst, Abnormality of the kidney OMIM:615987
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Micrognathia, Shoulder ... OMIM:274000
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Bardet-Biedl Syndrome 7
Polydactyly OMIM:615984
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Bardet-Biedl Syndrome 6
Polydactyly, Hypospadias, Syndactyly, Renal cyst OMIM:605231
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cirrhosis, Hepatocellular necrosis, Abnormality of ... OMIM:231100
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Hepatic fibrosis, Cystic liver disease, Renal cyst,... OMIM:612284
Atrial Septal Defect 8
Anomalous pulmonary venous return, Atrial septal defect OMIM:614433
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Renal cyst, Cleft palate, Bile... OMIM:603194
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Porphyria Cutanea Tarda, Type I
Hepatic fibrosis, Porphyrinuria OMIM:176090
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Craniosynostosis 2
Unicoronal synostosis, Craniosynostosis, Frontal bossing, Trigonocephaly, Brachycephaly, Supernum... OMIM:604757
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle, Chronic s... ORPHA:244
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Recurrent urinary tract infections, Jaundice, Hypersplenism, Renal insuffici... ORPHA:731
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Polycystic Kidney Disease 5
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys OMIM:617610
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Split hand, Patent ductus arteriosus, Clubbin... OMIM:600460
Bile Acid Synthesis Defect, Congenital, 5
Increased total iron binding capacity, Elevated hepatic transaminase, Portal hypertension, Hyperb... OMIM:616278
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Cerebral ... OMIM:613759
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mel... OMIM:260370
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Mesomelia, Hypoplasia of the ulna, Neonatal death,... OMIM:228940
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hepatic fibrosis, Short stature, Eleva... OMIM:232400
Mitchell-Riley Syndrome
Hyperglycemia, Annular pancreas, Biliary atresia, Hyperbilirubinemia, Intestinal malrotation, Jej... OMIM:615710
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Hydrocephaly-Low Insertion Umbilicus Syndrome
Anomalous pulmonary venous return, Patent ductus arteriosus, Tetralogy of Fallot, Long nose, Comm... ORPHA:2184
Juberg-Hayward Syndrome
Limited elbow extension, Horseshoe kidney, Abnormality of the radial head, Aplasia/Hypoplasia of ... OMIM:216100
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Atresia of ... OMIM:264475
Laurence-Moon Syndrome
Cryptorchidism, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases, ... ORPHA:2377
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Nephronophthisis, Postaxial hand polydactyly, Glucose intolerance, Impaired glucose ... OMIM:615630
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Nephropathy, Cholestatic liver disease, Chronic kidney disease, Ab... OMIM:602114
Acropectoral Syndrome
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb OMIM:605967
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb OMIM:176305
Hao-Fountain Syndrome
Cryptorchidism, Large fontanelles, Low-set ears, Delayed cranial suture closure, Trigonocephaly, ... OMIM:616863
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Papillary renal cell carcinoma, Recurrent pancreatitis, Renal cortical ade... OMIM:145001
Acrootoocular Syndrome
Small hypothenar eminence, Atresia of the external auditory canal, Grayish enamel, Sandal gap, Se... ORPHA:2980
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Atrial septal defect, Cutaneous syndactyly, Overlapping toe, Ventricular sep... OMIM:618316
Nephronophthisis 16
Nephronophthisis, Enlarged kidney, Cholestasis, Hepatic fibrosis, Polycystic kidney dysplasia, Re... OMIM:615382
Senior-Loken Syndrome 9
Nephronophthisis, Polydactyly, Cholestasis, Hepatic fibrosis, Tubulointerstitial nephritis, Stage... OMIM:616629
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Conjugated hyperbil... ORPHA:567983
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Postaxial polydactyly, Short distal phalanx of finger, Flat acetabular roof, High pa... OMIM:614091
Robinow Syndrome, Autosomal Dominant 2
Cryptorchidism, Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication... OMIM:616331
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Large fontanelles, Ma... ORPHA:1452
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Thick cerebral cortex, Ventricular septal defect, Abnormal heart morphology... ORPHA:261183
Cardioacrofacial Dysplasia 2
Genu valgum, Postaxial hand polydactyly, Limb undergrowth, Left superior vena cava draining to co... OMIM:619143
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Chronic pancreatitis, Pancreatic cysts, Renal tubular atrophy, Renal corticomed... OMIM:613159
Congenital Anomalies Of Kidney And Urinary Tract 3
Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis OMIM:618270
Perlman Syndrome
Cryptorchidism, Thickened helices, Open mouth, Dolichocephaly, Smooth philtrum, Bilateral single ... ORPHA:2849
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Molar tooth sign on MRI, Hydrocephalus OMIM:614120
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Thin vermilion border, Shoulder flexion contracture, Camptodacty... OMIM:619110
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Hypermethioninemia, Elevated hepatic transaminase OMIM:606664
Retinitis Pigmentosa 89
Micronodular cirrhosis, Postaxial polydactyly, Esophageal varix, Hepatic fibrosis, Intrahepatic b... OMIM:618955
Glycogen Storage Disease Ixc
Fasting hypoglycemia, Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Hyper... OMIM:613027
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Abnormality of the urinary system, Postaxia... OMIM:611561
Hemochromatosis Type 2
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Elevated hepatic t... ORPHA:79230
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Short phalanx of finger, High palate, Cone-shaped epiphysis, Neph... OMIM:266920
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hepatic fibrosis, C... OMIM:619111
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Splen... OMIM:602347
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Pierre Robin Sequence With Facial And Digital Anomalies
Frontal bossing, Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Micro... OMIM:311895
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Postaxial polysyndactyly of foot, Crossed fused renal ectopia, Abnormality of ... ORPHA:2919
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Postaxial polydactyly, Double outlet ... OMIM:217095
Bardet-Biedl Syndrome 4
Cryptorchidism, Polydactyly, Syndactyly, Renal cyst, Brachydactyly, Abnormality of the kidney OMIM:615982
Trichorhinophalangeal Syndrome, Type Iii
Coxa magna, Long philtrum, Short metatarsal, Short phalanx of finger, Dental crowding, Short fing... OMIM:190351
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph... OMIM:617805
Renal Cysts And Diabetes Syndrome
Proteinuria, Elevated circulating creatinine concentration, Impaired glucose tolerance, Hyperuric... OMIM:137920
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... OMIM:618167
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Hepatic fibrosis, Splenomegaly, Hyperammonemia, ... OMIM:271500
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly, Frontal boss... ORPHA:1515
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Isolated Biliary Atresia
Xanthelasma, Cirrhosis, Dark yellow urine, Elevated hepatic transaminase, Atretic gallbladder, Fa... ORPHA:30391
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Conductive hearing impairment, Partial duplication of the distal phala... ORPHA:2669
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Narrow mout... OMIM:311300
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly, Talipes equinovarus OMIM:616719
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Cerebral atrophy, Ventricular septal defect ORPHA:306550
Trichorhinophalangeal Syndrome Type 1 And 3
Long philtrum, Camptodactyly of finger, Short metatarsal, Frontal bossing, Macrotia, Micrognathia... ORPHA:77258
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Distal 7Q11.23 Microdeletion Syndrome
Microcephaly, Atrial septal defect, Patent ductus arteriosus, Porencephalic cyst ORPHA:254351
Leri-Weill Dyschondrosteosis
Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal... OMIM:127300
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... OMIM:613496
Donohue Syndrome
Fasting hypoglycemia, Ovarian cyst, Hyperinsulinemia, Long penis, Postprandial hyperglycemia, Lar... OMIM:246200
Bardet-Biedl Syndrome 22
Polydactyly OMIM:617119
Senior-Loken Syndrome
Nephronophthisis, Cone-shaped epiphysis, Congenital hepatic fibrosis, Chronic kidney disease, Sta... ORPHA:3156
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hypoglycemia, Hepatomegaly, ... OMIM:232700
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas ORPHA:65288
White Forelock With Malformations
Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Bronchomalacia, Pro... OMIM:277740
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Hepatic fibrosis, Hypertriglyceridemia, ... ORPHA:280356
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Oligodontia, Short proximal phalanx of finger, Short toe, Short finger, Supernumerary tooth, Shor... OMIM:191482
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Postaxial hand polydactyly, Short nose, Abnormal heart morphology, Anteri... OMIM:241800
Craniosynostosis With Anomalies Of The Cranial Base And Digits
Proximal placement of hallux, Preaxial foot polydactyly, Absent middle phalanx of 5th finger, Abs... OMIM:218530
Zimmermann-Laband Syndrome
Deep palmar crease, Macroglossia, Gingival fibromatosis, Thickened ears, Wide mouth, Hypodontia, ... ORPHA:3473
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Delayed eruption of primar... OMIM:265800
Kaposiform Lymphangiomatosis
Abnormal humerus morphology, Abnormality of femur morphology, Multiple renal cysts, Abnormality o... ORPHA:464329
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Pulmonic stenosis, Aortic valve stenosis,... OMIM:615415
Alveolar Echinococcosis
Abnormality of mesentery morphology, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis, Abnormal... ORPHA:284
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Increased total bilirubin, Narrow palate, Tapered toe, Macrovesicular hepatic steatosis, Long toe... OMIM:608836
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
Pentosuria
Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ... ORPHA:2843
Orofaciodigital Syndrome Xviii
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... OMIM:617927
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Meckel Syndrome
Urethral atresia, Cryptorchidism, Preaxial hand polydactyly, Postaxial hand polydactyly, Accessor... ORPHA:564
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Shor... OMIM:615297
Femoral-Facial Syndrome
Hip dysplasia, Cryptorchidism, Maternal diabetes, Short femur, Radioulnar synostosis, Long penis,... ORPHA:1988
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Epiphyseal stippling, Decreased liver function, Renal cyst OMIM:614870
Rhyns Syndrome
Nephronophthisis, Abnormality of long bone morphology, Hypoplastic ilia, Abnormal acetabulum morp... ORPHA:140976
Multiple Acyl-Coa Dehydrogenase Deficiency
Renal cortical cysts, Glutaric aciduria, Elevated circulating glutaric acid concentration, Hepati... OMIM:231680
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
Cirrhosis, Growth delay, Cholestasis, Hepatic fibrosis, Abnormal intestine morphology OMIM:609313
Glycogen Storage Disease Ia
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232200
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Genu valgum, Pierre-Robin sequence, Microretrognathia, To... OMIM:618363
Hadziselimovic Syndrome
Prominent nasal bridge, Atrial septal defect, Ventricular hypertrophy, Ventricular septal defect,... OMIM:612946
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Genu valgum, Irregular tarsal ossification, Irregular carpal bones, Hip subluxation, Renal insuff... OMIM:226980
Aa Amyloidosis
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Hypothyroidism, Nephropathy, Cholestasis... ORPHA:85445
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Trichorhinophalangeal Syndrome Type 2
Hip dysplasia, Long philtrum, Genu valgum, Conductive hearing impairment, Low-set, posteriorly ro... ORPHA:502
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short foot, Short metacarpal, Brac... OMIM:611263
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Congenital hip dislocation, Hyperechogenic pancreas, Hypothyro... ORPHA:456312
Nevus Comedonicus Syndrome
Spina bifida, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida occulta ORPHA:64754
Adams-Oliver Syndrome 6
Renal hypoplasia, Foot oligodactyly, Esophageal varix, Hepatic fibrosis, Syndactyly, Portal hyper... OMIM:616589
Brachycephaly, Trichomegaly, And Developmental Delay
Thin vermilion border, Open mouth, Overfolded helix, Conductive hearing impairment, Flat occiput,... OMIM:617412
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Partial duplication of the distal phalanx of the hallux, Hearing impairment, Short distal phalanx... OMIM:256200
Lysosomal Acid Lipase Deficiency
Elevated circulating aspartate aminotransferase concentration, Cirrhosis, Hypercholesterolemia, D... OMIM:278000
Feingold Syndrome
Toe syndactyly, Micrognathia, Esophageal atresia, Oral cleft, Deviation of the 2nd finger, Duoden... ORPHA:1305
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Biemond Syndrome Ii
Preaxial hand polydactyly, Hydrocephalus OMIM:210350
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration,... ORPHA:53035
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Synostosis of carpal b... ORPHA:93351
Hanac Syndrome
Renal insufficiency, Multiple renal cysts, Hematuria ORPHA:73229
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Fanconi Anemia, Complementation Group O
Cryptorchidism, Hypoplasia of the radius, Anal atresia, Hydronephrosis, Renal cyst, Stage 5 chron... OMIM:613390
Glycogen Storage Disease Ib
Xanthelasma, Elevated hepatic transaminase, Enlarged kidney, Focal segmental glomerulosclerosis, ... OMIM:232220
Acrocardiofacial Syndrome
Camptodactyly of finger, Atrial septal defect, Truncus arteriosus, Toe syndactyly, Ventricular se... ORPHA:2008
Platyspondylic Dysplasia, Torrance Type
Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing of the long bon... ORPHA:85166
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Oligodontia, Finger syndactyly, Midface retrusion, Unilateral cleft lip, Lo... ORPHA:1787
Tyrosinemia, Type I
Paralytic ileus, Cirrhosis, Elevated hepatic transaminase, Hypertyrosinemia, Enlarged kidney, Ren... OMIM:276700
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of the ankles, Elbow dislocation, Abnormally shaped carpal bones, ... ORPHA:968
Von Hippel-Lindau Syndrome
Multiple renal cysts, Pheochromocytoma, Pancreatic cysts, Renal cell carcinoma, Neoplasm of the p... OMIM:193300
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormality of epiphysis morphology, Elbow dislocation, Abnormal metacar... ORPHA:2631
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Renal agenesis, Elevated hepatic transaminase, Acute kidney injury, Horseshoe kidney, Hypothyroid... ORPHA:93111
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, Fin... ORPHA:1908
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult... OMIM:143400
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Rhizomelia, Hypoplastic ilia, Short finger, Hypodontia, Cer... OMIM:607095
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Hydro... OMIM:617866
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Total Anomalous Pulmonary Venous Return 1
Tapered distal phalanges of finger, Total anomalous pulmonary venous return, Recurrent respirator... OMIM:106700
Joubert Syndrome 36
Mesoaxial hand polydactyly, Molar tooth sign on MRI OMIM:618763
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Nephronophthisis 3
Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Hepatic fibrosis, Renal tubula... OMIM:604387
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Cryptorchidism, Wormian bones, Abnormality of... ORPHA:2863
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Broa... OMIM:615524
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Hypoketotic hypoglycem... ORPHA:157
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Narrow palate, Persistent open anterior fontanelle, Hypoplastic... OMIM:119600
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Elevated hepatic transaminase, Growth delay, Hypoglycemia, Hepatomegaly, Hy... OMIM:306000
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Lacticaciduria, Scapular winging, Elevated hepatic transaminase, Glut... ORPHA:26791
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Hyperinsulinemic hypoglycemia, Villous atrophy, Protein-losing enteropathy, Hepatic fi... OMIM:602579
49,Xyyyy Syndrome
Large carpal bones, Cubitus valgus, Bridged palmar crease, Increased circulating gonadotropin lev... ORPHA:99330
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Fasting hypoglycemia, Elevated hepatic transaminase, Hepatocellu... ORPHA:370
Biliary Malformation With Renal Tubular Insufficiency
Talipes equinovarus, Generalized aminoaciduria, Conjugated hyperbilirubinemia, Aminoaciduria, Bil... OMIM:210550
Au-Kline Syndrome
Hip dysplasia, Deep palmar crease, Oligodontia, Cryptorchidism, Craniosynostosis, Downturned corn... OMIM:616580
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Hand polydactyly, Ventricular septal defect, Patent ductus arteriosus, Pulm... OMIM:249670
Tricho-Retino-Dento-Digital Syndrome
Oligodontia, Short 5th metacarpal, Abnormality of the dentition, Supernumerary tooth, Abnormality... ORPHA:1264
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Caroli Syndrome
Conjugated hyperbilirubinemia, Jaundice, Hypersplenism, Abnormality of the kidney, Cirrhosis, Int... ORPHA:480520
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, 2-3 toe syndactyly, Single transverse palmar crease, Brachydactyly, Neo... OMIM:236500
Renal Tubular Dysgenesis
Microcephaly, Tetralogy of Fallot, Pulmonary hypoplasia, Bilateral single transverse palmar creases ORPHA:3033
Monosomy 13Q34
Postaxial hand polydactyly, Postaxial foot polydactyly, Pulmonic stenosis, Broad nasal tip, Micro... ORPHA:96168
Mpi-Cdg
Hepatic failure, Malabsorption, Congenital hepatic fibrosis, Hypoglycemia ORPHA:79319
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Coloboma, Ventricular septal defect, Decreased response to growth hormone s... OMIM:220210
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndac... ORPHA:380
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic... ORPHA:228308
Arthrogryposis, Distal, Type 1A
Cryptorchidism, Congenital hip dislocation, Narrow mouth, Camptodactyly, Sensorineural hearing im... OMIM:108120
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae OMIM:611867
Congenital Megacalycosis
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... ORPHA:93109
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Heart-Hand Syndrome Type 2
Short 4th metacarpal, Cryptorchidism, Hand polydactyly, Hemiatrophy, Abnormal palate morphology, ... ORPHA:1350
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Atrial septal def... ORPHA:2655
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Esophagitis, Elevated hepatic transaminase, Hepatic steatosis, Drumstick terminal phalanges, Grow... ORPHA:541423
Emanuel Syndrome
Atrial septal defect, Truncus arteriosus, Congenital hip dislocation, Ventricular septal defect, ... OMIM:609029
Orofaciodigital Syndrome Iii
Postaxial hand polydactyly, Tongue nodules, Short sternum, Low-set ears, Bifid tongue, Supernumer... OMIM:258850
Spinal Muscular Atrophy, Type I
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect OMIM:253300
Acrocephalopolydactylous Dysplasia
Postaxial hand polydactyly, Enlarged kidney, Cystic renal dysplasia, Polysplenia, Hypoplastic col... OMIM:200995
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Delayed puberty, Elevated circulating creatine kinase concentration, Cirrho... ORPHA:264580
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hip dyspl... ORPHA:10
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Craniosynostosis, Broad thumb, 1-3 toe syndactyly, Broad hallux phalanx, Trigonoc... OMIM:175700
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Nephronophthisis, Abnormality of long bone morphology, Polydactyly, In... ORPHA:1505
Distal Monosomy 12Q
Pyloric stenosis, Vesicoureteral reflux, High, narrow palate, Elbow flexion contracture, Micropen... ORPHA:96149
Matthew-Wood Syndrome
Cryptorchidism, Horseshoe kidney, Aplasia/Hypoplasia of the pancreas, Renal hypoplasia, Abnormal ... ORPHA:2470
Cleft Palate, Deafness, And Oligodontia
Short hallux, Sandal gap, Bilateral conductive hearing impairment, Cleft soft palate, Oligodontia... OMIM:216300
Coach Syndrome 1
Nephronophthisis, Cirrhosis, Postaxial hand polydactyly, Elevated hepatic transaminase, Unilatera... OMIM:216360
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Nonketotic hypoglycemia, ... ORPHA:293964
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Coloboma, Hypoplastic frontal sin... OMIM:136760
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, Polycystic li... OMIM:174050
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Bardet-Biedl Syndrome
Cryptorchidism, Postaxial hand polydactyly, Medial flaring of the eyebrow, Finger syndactyly, Mul... ORPHA:110
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Anomalous pulmonary venous return, Finger syndactyly, Umbilical hernia, ... ORPHA:2311
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Short phalanx of finger, Bulbous nose, Ventricular septal defec... OMIM:613458
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Obliteration of the calvarial diploe, Taurodontia, Finger clinodactyly, Front... ORPHA:3352
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Phaver Syndrome
Triphalangeal thumb, Camptodactyly of finger, Broad thumb, Radioulnar synostosis, Ventricular sep... ORPHA:2876
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Polydactyly, Absent tibia OMIM:188740
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Hydrocephalus, Ventricular septal defect, Megalencephaly, Polymicrogy... ORPHA:83473
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Aphalangy With Hemivertebrae
Ventricular septal defect, Aphalangy of the hands, Pulmonary hypoplasia, Aplasia of the phalanges... OMIM:207620
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cubitus valgus, Cryptorchidism, Camptodactyly, Elevated circulating long chain fatty acid concent... OMIM:214110
Limb-Mammary Syndrome
Hypohidrosis, Split hand, Camptodactyly, Hypodontia, Hypoplastic nipples, Syndactyly, Split foot,... OMIM:603543
Diamond-Blackfan Anemia 20
Total anomalous pulmonary venous return, Acetabular dysplasia OMIM:618313
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Cutaneous syndactyly of toes, Contracture of the proximal interphalang... ORPHA:2872
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Pulmonary hypoplasia, ... ORPHA:2141
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Hepatic fibrosis, Talipes equinovarus, Hepatosplenomegaly, Acute hepatic failure ORPHA:466794
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Hypoplasia of teeth, Congenital hip dislocation, Overfolded helix, Mandibular pro... OMIM:268400
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Hypoglycemia, Pancreatic ... OMIM:610021
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Narrow palate, Short phalanx of finger, Bro... OMIM:255980
Orofaciodigital Syndrome Xvii
Clubbing of fingers, Central Y-shaped metacarpal, Polydactyly, Renal hypoplasia, Short middle pha... OMIM:617926
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Large fontanelles, Hearing ab... ORPHA:2511
Joubert Syndrome 18
Polydactyly, Camptodactyly, Molar tooth sign on MRI OMIM:614815
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carp... ORPHA:90650
Carpenter Syndrome
Genu valgum, Cryptorchidism, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Craniosynos... ORPHA:65759
Atelosteogenesis Type I
Short femur, Abnormal ossification involving the femoral head and neck, Multiple renal cysts, Mid... ORPHA:1190
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hypothyroidism, Hepatic steatosis, Pancreatic fibrosis, Steatorrhea, Hepatic fibrosis, Hepatomega... OMIM:616263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Coloboma, Type II lissencephaly, Abnormal cerebral white... OMIM:613153
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease
Abnormality of the tongue, Broad palm, Intestinal malrotation, Bilateral cleft lip and palate, Fl... OMIM:601165
Porphyria Cutanea Tarda
Increased circulating ferritin concentration, Hepatic lobular inflammation, Elevated hepatic tran... ORPHA:101330
Desmosterolosis
Anomalous pulmonary venous return, Pachygyria, Short nose, Agenesis of corpus callosum, Absent se... ORPHA:35107
Hallermann-Streiff Syndrome
Cryptorchidism, Thin vermilion border, Wormian bones, Narrow palate, Narrow mouth, Natal tooth, H... OMIM:234100
Combined Oxidative Phosphorylation Deficiency 52
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Hyperamylasemia, Elevated circulating alanine... OMIM:619386
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Pulp calcification, Short phalanx of fing... OMIM:606895
Bardet-Biedl Syndrome 1
Abnormality of the ovary, Postaxial hand polydactyly, Micropenis, High palate, Hirsutism, Agangli... OMIM:209900
Ellis-Van Creveld Syndrome
Genu valgum, Talipes equinovarus, Postaxial hand polydactyly, Atrial septal defect, Hypoplastic i... OMIM:225500
Mirizzi Syndrome
Elevated hepatic transaminase, Gallbladder perforation, Cholesterol gallstones, Dark urine, Hyper... ORPHA:521219
Pancreatic And Cerebellar Agenesis
Overlapping fingers, Hypoglycemia, Pancreatic hypoplasia, Hyperglycemia, Diabetes mellitus OMIM:609069
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatic cysts, Elevated circulating creatinine concentration, Recurrent urinary tract infections,... OMIM:613095
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Micrognathia, Prominent metopic r... OMIM:275595
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Postaxial polydactyly, Short digit, Femoral bowing, ... OMIM:613091
Temple Syndrome
Cryptorchidism, Short philtrum, Frontal bossing, Recurrent otitis media, Decreased testicular siz... OMIM:616222
Meckel Syndrome, Type 4
Postaxial hand polydactyly, Bowing of the long bones, Renal cyst, Cleft palate, Bile duct prolife... OMIM:611134
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Renal steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Cat Eye Syndrome
Chorioretinal coloboma, Abnormal heart morphology, Iris coloboma, Absent radius, Total anomalous ... OMIM:115470
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly, Pancreatic hypoplasia, Cardiomegaly, Retroperitoneal fibrosis, Elbow flexion contr... OMIM:602782
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Periportal fibrosis, Ulnar deviation of the hand, Short long bone,... OMIM:263210
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Abnormality of the palmar creases, Coloboma, Ventricular septal defect, Pat... OMIM:618652
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short metatarsal, Short phalanx of finger, Broad thumb, Flared iliac wing, Split hand, Hypoplasti... OMIM:609945
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Interlobu... OMIM:265450
Sonoda Syndrome
High axial triradius, Depressed nasal bridge, Ventricular septal defect OMIM:270460
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Split foot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Mohr Syndrome
Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palat... OMIM:252100
Coloboma Of Macula With Type B Brachydactyly
Coloboma, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the th... OMIM:120400
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Antecub... ORPHA:93320
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Short toe, Atrial septal defect, Toe syndactyly, Coloboma, Radioulnar syn... ORPHA:921
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Decreased plasma carnitine, Hepatocellular necrosis, Hepatic steatosis, Periportal fibrosis, Nonk... OMIM:201475
Feingold Syndrome 2
3-4 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 2nd finger, 2-3 toe sy... OMIM:614326
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis, Porencephalic cyst OMIM:601322
17Q12 Microdeletion Syndrome
Cryptorchidism, Elevated hepatic transaminase, Pancreatic aplasia, Multicystic kidney dysplasia, ... ORPHA:261265
Orofaciodigital Syndrome Xv
Broad hallux, Molar tooth sign on MRI, Postaxial polydactyly OMIM:617127
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Elevated alpha-fetoprotein, Hepatomegaly ORPHA:33402
Distal Monosomy 17Q
Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the u... ORPHA:1597
Atelosteogenesis, Type Ii
Dumbbell-shaped femur, Stillbirth, Hitchhiker thumb, Short middle phalanx of finger, Short greate... OMIM:256050
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal dysplasia, Renal cyst, Renal agenesis, Abnormality of the kidney OMIM:615993
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Metaphyseal irregularity, Narrow iliac wing, Joint contracture of the 5... OMIM:601668
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Bilateral sensorineural h... OMIM:605282
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Postaxial hand polydactyly, Micropen... OMIM:263520
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Abnormality of the kidney OMIM:613730
Verheij Syndrome
Short nose, Coloboma, Cerebral atrophy, Wide nasal bridge, Clinodactyly, Hip dislocation, Microce... OMIM:615583
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Delayed closure of the anterior fontanelle, Dental crowding, Polydactyly, Upper limb asymmetry, P... ORPHA:231140
Stankiewicz-Isidor Syndrome
Truncus arteriosus, Ventricular septal defect, 2-3 toe syndactyly, Patent ductus arteriosus, Shor... OMIM:617516
Wt Limb-Blood Syndrome
Cryptorchidism, Short phalanx of finger, Radioulnar synostosis, Micrognathia, Joint contracture o... OMIM:194350
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Frontal open bite, Delayed closure of the anterior fontanelle, Short phalanx of finger, Wide ante... OMIM:225410
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Coloboma, Absent septum pellucidum, Ventricular septal defect, Holoprosencephaly, Fo... OMIM:601357
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Elevated circulating alka... OMIM:616829
Odontochondrodysplasia 1
Nephronophthisis, Short phalanx of finger, Flared iliac wing, Mesomelic short stature, Delayed os... OMIM:184260
Muenke Syndrome
Broad thumb, Cone-shaped epiphyses of the phalanges of the hand, Midface retrusion, Short middle ... OMIM:602849
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary... OMIM:234810
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Metaphyseal irregularity, Carpal bone hypoplasia, Long proximal phala... OMIM:603546
Mend Syndrome
Overlapping fingers, Cryptorchidism, Overlapping toe, Polydactyly, Microretrognathia, Midface ret... OMIM:300960
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Mosaic Trisomy 1
Long toe, Complete duplication of thumb phalanx, Elbow flexion contracture, Depressed nasal bridg... ORPHA:1692
Hyperbiliverdinemia
Green urine, Decreased liver function, Cholelithiasis, Cholestasis OMIM:614156
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Micrognathia, Midface retrusion, Sensorineural hearing impairment, Cleft p... OMIM:604841
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Coloboma, Iris coloboma, Preaxial hand polydactyly, Truncus arteriosus, Retinal colo... ORPHA:508498
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Insulin resistance, Enlarged kidney, Hirsutism... ORPHA:90301
Orofaciodigital Syndrome Vi
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Tongue nodules, Conductiv... OMIM:277170
Feingold Syndrome Type 2