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Gene: Cir1 MGI:1914185

Gene Summary

Name:

corepressor interacting with RBPJ, 1

Synonyms:

2810021A19Rik, CIR, 1700023B02Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased grip strength		Cir1^{tm3a(KOMP)Wtsi}	HET		Early adult	1.04×10^-06
preweaning lethality, complete penetrance		Cir1^{tm3a(KOMP)Wtsi}	HOM		Early adult	0.00

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X-ray

XRay Images Forepaw

14 Images

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DSS Histology

Images

8 Images

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Anti-nuclear antibody assay

Images

6 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Cir1^{tm3a(KOMP)Wtsi}
WT, Male, WTSI

Cir1^{tm3a(KOMP)Wtsi}
WT, Female, WTSI

View all 138 images

Cir1^{tm3a(KOMP)Wtsi}
HOM, Male, WTSI

Human diseases caused by Cir1 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.

Human diseases associated with Cir1 (0 diseases)
Human diseases predicted to be associated with Cir1 (756 diseases)

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

The table below shows human diseases predicted to be associated to Cir1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Abnormal cranial nerve morphology, Ectopic anus, Spina bifida, Renal h...	ORPHA:2345
Spondylocostal Dysostosis 4, Autosomal Recessive	Aplasia of posterior communicating artery, Ectopic anus, Pectus excavatum, Spina bifida occulta, ...	OMIM:613686
Autosomal Recessive Spondylocostal Dysostosis	Meningocele, Camptodactyly of finger, Short thorax, Kyphosis, Vertebral segmentation defect, Rib ...	ORPHA:2311
Poland Syndrome	Short ribs, Unilateral hypoplasia of pectoralis major muscle, Absence of pectoralis minor muscle,...	OMIM:173800
Prune Belly Syndrome	Congenital posterior urethral valve, Abnormality of the bladder, Pectus excavatum, Abnormality of...	ORPHA:2970
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Sacral dimple, Double outlet right ventricle, Vertebral fusion, Patent ductus arteriosus, Short t...	OMIM:618845
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Cardiomegaly, Hypoplasia of the thymus, Ventricul...	OMIM:617022
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb...	OMIM:609813
Basal Cell Nevus Syndrome 1	Bifid ribs, Hamartomatous stomach polyps, Vertebral fusion, Abnormal sternum morphology, Cardiac ...	OMIM:109400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Polyhydramnios, Synophrys, Supernumerary nipple, Pectus excavatum, Short neck, Beaking of vertebr...	OMIM:213980
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor...	OMIM:277300
Heart Defects-Limb Shortening Syndrome	Ventricular septal defect, Abnormal mitral valve morphology, Kyphosis, Accelerated skeletal matur...	ORPHA:1354
Cerebrofaciothoracic Dysplasia	Bifid ribs, Polyhydramnios, Narrow chest, Vertebral segmentation defect, Synophrys, Short neck, R...	ORPHA:1394
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short thorax, Vertebral segmentation defect, Missing ribs, Posterior rib fusion, A...	ORPHA:1797
Osteogenesis Imperfecta	Flexion contracture, Thoracic hypoplasia, Pectus excavatum, Dislocated radial head, Intestinal ob...	ORPHA:666
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Vertebral segmentation defect, Polycystic kidney dysplasia, Maternal di...	ORPHA:1988
Becker Nevus Syndrome	Kyphosis, Supernumerary ribs, Supernumerary nipple, Pectus excavatum, Spina bifida occulta, Rib f...	ORPHA:64755
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, High palate, Prominent sternum, Perimembranous ventricular septal defect, Synop...	OMIM:617877
Autosomal Recessive Multiple Pterygium Syndrome	Camptodactyly of finger, Pectus excavatum, Spina bifida occulta, Cleft palate, Arthrogryposis mul...	ORPHA:2990
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Coloboma, Truncus arteriosus, Abnormal optic disc morphology, Hip ...	ORPHA:508498
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral clefting, Vertebral segmentation defect, Short neck, Rib fusion, Hemivertebrae	OMIM:608681
Schneckenbecken Dysplasia	Polyhydramnios, Thoracic hypoplasia, Anterior rib cupping, Advanced ossification of carpal bones,...	OMIM:269250
Pallister-Hall Syndrome	Precocious puberty, Renal dysplasia, Decreased circulating cortisol level, Hip dislocation, Cleft...	OMIM:146510
Aicardi Syndrome	Bifid ribs, Gastroesophageal reflux, Precocious puberty, Sparse lateral eyebrow, Optic atrophy, B...	ORPHA:50
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Ascending tubular aorta aneurysm, Bifid uvula, Camptodactyly, Ascending aor...	OMIM:610168
Arnold-Chiari Malformation Type I	Urinary incontinence, Stiff neck, Abnormality of the eleventh cranial nerve, Cranial nerve compre...	ORPHA:268882
Myhre Syndrome	Pericardial effusion, Camptodactyly, Short neck, Skeletal muscle hypertrophy, Cleft palate, Thick...	OMIM:139210
Alagille Syndrome	Ventricular septal defect, Nephrotic syndrome, Butterfly vertebral arch, Vertebral segmentation d...	ORPHA:52
Cardiac Diverticulum	Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu...	ORPHA:1686
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Polyhydramnios, Butterfly vertebrae, Nonimmune hydrops fetalis, Pu...	OMIM:265380
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Nodular goiter, Osteolysis, Iris coloboma, Hirsutism, Papilledema, Abnormal ...	ORPHA:371428
Microphthalmia, Syndromic 3	Patent ductus arteriosus, Vertebral fusion, Anterior pituitary hypoplasia, Vertebral hypoplasia, ...	OMIM:206900
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the elbow, Synophrys, Radioulnar synostosis, Delayed skeletal maturation, Scoliosi...	ORPHA:3268
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Hypothyroidism, Perimembranous ventricular septal defect, Camptodactyly...	OMIM:608104
1P36 Deletion Syndrome	Delayed cranial suture closure, Hypothyroidism, Camptodactyly of finger, Aortic arch aneurysm, Ab...	ORPHA:1606
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Supernumerary ribs, Missing ribs, Butterfly vertebrae, Posterior...	OMIM:122600
Aicardi Syndrome	Bifid ribs, Dilated third ventricle, Precocious puberty, Sparse lateral eyebrow, Optic atrophy, B...	OMIM:304050
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Patent foramen ovale, Double outlet right...	ORPHA:477817
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Flexion contracture, Multiple joint contractures, Anterior clefting of vertebral b...	OMIM:265000
Loeys-Dietz Syndrome 1	Bifid uvula, Camptodactyly, Ascending aortic dissection, Bicuspid pulmonary valve, Cleft palate, ...	OMIM:609192
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Myelomeningocele, Enlarged thorax, M...	ORPHA:66637
Heart Defects, Congenital, And Other Congenital Anomalies	Truncus arteriosus, Hypoplastic tricuspid valve, Microcolon, Cervical ribs, Pulmonary artery sten...	OMIM:600001
Dental Anomalies And Short Stature	Intervertebral space narrowing, Narrow vertebral interpedicular distance, Mitral valve prolapse, ...	OMIM:601216
Charge Syndrome	Hypothyroidism, Polyhydramnios, Gonadotropin deficiency, Coloboma, Secundum atrial septal defect,...	OMIM:214800
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Abnormality ...	OMIM:607872
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Irregular vertebral endplates, Patellar dislocation, Multiple joint dislocation, Narrow vertebral...	OMIM:618395
Proximal 16P11.2 Microdeletion Syndrome	Gastroesophageal reflux, Multicystic kidney dysplasia, Pyloric stenosis, Abnormal aortic valve mo...	ORPHA:261197
Snijders Blok-Campeau Syndrome	High palate, Perimembranous ventricular septal defect, Joint laxity, Atrial septal defect, Scolio...	OMIM:618205
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, High palate, Vertebral segmentation defect, Butterfly vertebrae, Left ...	OMIM:611209
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, High palate, Frontal hirsutism, Atrial s...	ORPHA:3304
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ...	OMIM:601927
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Bifid tongue, Ectopic anus, Pectus excavatum, Elbow dislocation, Short n...	ORPHA:1507
Verheij Syndrome	Vertebral fusion, Coloboma, Abnormal cardiac septum morphology, Renal agenesis, Hip dislocation, ...	OMIM:615583
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Precocious puberty, Ventricular septal defect, Narrow vertebral interpedicular ...	OMIM:620073
Robinow Syndrome	Bifid tongue, High anterior hairline, Multicystic kidney dysplasia, Radioulnar dislocation, Ventr...	ORPHA:97360
Apert Syndrome	Delayed cranial suture closure, Humeroradial synostosis, Ectopic anus, Bifid uvula, Cleft palate,...	OMIM:101200
Lateral Meningocele Syndrome	Meningocele, Pectus excavatum, Short neck, Coarse hair, Cleft palate, Sclerosis of skull base, Ve...	OMIM:130720
Cartilage-Hair Hypoplasia	Fair hair, Limited elbow extension, Sparse eyelashes, Sparse hair, Lumbar hyperlordosis, Esophage...	OMIM:250250
Williams Syndrome	Hypothyroidism, Peptic ulcer, Aortic arch aneurysm, Precocious puberty, Patellar dislocation, Abn...	ORPHA:904
Kbg Syndrome	Vertebral fusion, Thoracic kyphosis, Synophrys, Cervical ribs, Short neck, Delayed skeletal matur...	ORPHA:2332
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Hydronephrosis, Decreased response to growth hormone stimulation t...	OMIM:220210
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Atrial septal defect, Oligohydramnios, Hypertrophic car...	OMIM:620135
Axial Mesodermal Dysplasia Spectrum	Abnormality of the ureter, Short neck, Abnormal intestine morphology, Abnormality of the urinary ...	ORPHA:1834
Catel-Manzke Syndrome	Genu valgum, Joint dislocation, High palate, Ventricular septal defect, Thin eyebrow, Bifid uvula...	OMIM:616145
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short ribs, Missing...	OMIM:271520
Trisomy 13	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Kyphosis, Optic atrophy, Na...	ORPHA:3378
Caudal Regression Syndrome	Vesicoureteral reflux, Decreased muscle mass, Arrhinencephaly, Maternal diabetes, Renal agenesis,...	ORPHA:3027
Peters Plus Syndrome	Polyhydramnios, Abnormal cardiac septum morphology, Optic atrophy, Anterior hypopituitarism, Abno...	ORPHA:709
Multiple Pterygium Syndrome, X-Linked	Polyhydramnios, Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Abn...	OMIM:312150
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Camptodactyly of finger, Ventricular hypertrophy, Shoulder dislocation, Flexion contracture, Elbo...	OMIM:143095
Septopreoptic Holoprosencephaly	Ethmoidal encephalocele, Precocious puberty, Anterior hypopituitarism, Abnormal vertebral morphol...	ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Achilles tendon contracture, ...	OMIM:606612
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Fused cervical vertebrae, Short neck, Scoliosis, Low posterior hairlin...	OMIM:214300
Koolen-De Vries Syndrome	Hypothyroidism, Abnormal cardiac septum morphology, Hip dislocation, Pectus excavatum, Cleft pala...	ORPHA:96169
Brachydactyly, Type B1	Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Ve...	OMIM:113000
Femoral-Facial Syndrome	Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Cleft palate, Ventricular se...	OMIM:134780
Multiple Pterygium Syndrome, Lethal Type	Polyhydramnios, Vertebral fusion, Flexion contracture, Increased susceptibility to fractures, Abn...	OMIM:253290
Mungan Syndrome	Vesicoureteral reflux, Barrett esophagus, Hypoperistalsis, Perimembranous ventricular septal defe...	OMIM:611376
Sandestig-Stefanova Syndrome	High palate, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal...	OMIM:618804
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Patent ductus arteriosus, High anterior hairline, Perimembranous ventricular septal defect, Recur...	ORPHA:363444
Congenital Hypothyroidism	Abnormal pericardium morphology, Hypothyroidism, Hypogonadism, Optic atrophy, Anterior hypopituit...	ORPHA:442
Cardiospondylocarpofacial Syndrome	Delayed skeletal maturation, Patent foramen ovale, Vesicoureteral reflux, Fusion of middle ear os...	OMIM:157800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, Ventricular septal defect, Kyphosis, Perimembranous ventricular septal d...	OMIM:301040
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp...	OMIM:178110
Humero-Radio-Ulnar Synostosis	Abnormality of the upper urinary tract, Abnormality of the ureter, Radioulnar synostosis, Elbow a...	ORPHA:3266
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Vertebral arch anomaly, Curly hair, High palate, Wide anterior fontanel, Increased bone mineral d...	ORPHA:85184
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bell-shaped thorax, Genu varum, Delayed epiphyseal ossification, Vertebral hypoplasia, Short ribs...	OMIM:602557
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Polyhydramnios, Premature thelarche, Flexion contracture, Colobom...	OMIM:180849
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	High anterior hairline, Sparse eyebrow, Gastroesophageal reflux, Achalasia, Ventricular septal de...	OMIM:600987
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Renal hypoplasia/aplasia, Vertebral segmentation defect, Missing ribs, Iris c...	ORPHA:3186
Koolen-De Vries Syndrome	Fair hair, Hip dislocation, Pectus excavatum, Prominent metopic ridge, Abnormality of hair textur...	OMIM:610443
Wolf-Hirschhorn Syndrome	Abnormal cardiac septum morphology, Optic atrophy, Abnormal thorax morphology, Iris coloboma, Del...	ORPHA:280
Robinow Syndrome, Autosomal Recessive 1	Delayed cranial suture closure, Bifid tongue, Pectus excavatum, Dislocated radial head, Short nec...	OMIM:268310
Familial Papillary Or Follicular Thyroid Carcinoma	Recurrent fractures, Papillary renal cell carcinoma, Nodular goiter, Abnormal neck blood vessel m...	ORPHA:319487
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal oncocytoma, Recurrent fractures, Papillary renal cell carcinoma, Nodular goiter, Renal cort...	ORPHA:97290
Chromosome 9P Deletion Syndrome	Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Perimembranous v...	OMIM:158170
Diabetic Embryopathy	Abnormal aortic morphology, Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculatu...	ORPHA:1926
Ehlers-Danlos Syndrome, Classic-Like, 2	Shoulder dislocation, Hip dislocation, Short neck, Knee dislocation, Aortic root aneurysm, Genera...	OMIM:618000
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Abnormal vertebral segmentation and fusion,...	OMIM:118100
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid...	ORPHA:95716
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Generalized bone demineralization, Genu varum, Thoracic hypoplasia, Squared-off pl...	ORPHA:93352
Alagille Syndrome 1	Vesicoureteral reflux, Multiple small medullary renal cysts, Ventricular septal defect, Renal tub...	OMIM:118450
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect	OMIM:619170
Ring Chromosome 21 Syndrome	Diabetes insipidus, Thoracic hemivertebrae, Abnormal thorax morphology, Abnormal heart morphology...	ORPHA:1445
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Kyphosis, Fused cervical vertebrae, Pectus excavatum, Abnormality of the ureter, S...	ORPHA:2522
3C Syndrome	Atrioventricular canal defect, Optic atrophy, Ectopic anus, Iris coloboma, Short neck, Cleft pala...	ORPHA:7
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Atlantoaxial dislocation, Camptodactyly, Hip dislocation, Pectus excavatum, Hype...	OMIM:252500
Developmental And Speech Delay Due To Sox5 Deficiency	Gastroesophageal reflux, Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongu...	ORPHA:313892
Zttk Syndrome	Flexion contracture, Optic atrophy, Broad eyebrow, Bifid uvula, Cervical ribs, Intestinal atresia...	OMIM:617140
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Atrioventricular canal defect, Pulmonary valve atresia, Patent ductus arterio...	ORPHA:210122
Alkaptonuria	Mitral valve calcification, Vertebral fusion, Thickened Achilles tendon, Kyphosis, Arthropathy, L...	OMIM:203500
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Hypoplasia of the ...	OMIM:305620
Cowden Syndrome 5	Hypothyroidism, Hyperthyroidism, Colonic diverticula, Kyphosis, High palate, Thyroiditis, Hydroce...	OMIM:615108
Holt-Oram Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular ...	ORPHA:392
Maffucci Syndrome	Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Recurrent...	ORPHA:163634
Ogden Syndrome	Delayed cranial suture closure, Secundum atrial septal defect, Pectus excavatum, Short neck, Dela...	OMIM:300855
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Chromosome 18Q Deletion Syndrome	Patent ductus arteriosus, Ascending tubular aorta aneurysm, Decreased response to growth hormone ...	OMIM:601808
Pallister-Hall Syndrome	Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Renal dysplasia, Bifi...	ORPHA:672
Hypochondroplasia	Lumbar hyperlordosis, Genu varum, Limited elbow extension, Widened interpedicular distance	OMIM:146000
Aorta Coarctation	Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru...	ORPHA:1457
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap...	ORPHA:1166
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Exercise-induced myoglobinuri...	OMIM:607155
Monosomy 18Q	Patent ductus arteriosus, Hypothyroidism, Absence of the pulmonary valve, High palate, Bilateral ...	ORPHA:1600
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Fused cervical verteb...	OMIM:617159
Lower Limb Malformation-Hypospadias Syndrome	Sacral dimple, Hypospadias, Short neck, Abnormality of the ureter	ORPHA:2487
Cowden Syndrome 6	Hypothyroidism, Hyperthyroidism, Colonic diverticula, Kyphosis, High palate, Thyroiditis, Hydroce...	OMIM:615109
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Duodenal atresia, Rig...	OMIM:306955
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac...	OMIM:179613
Larsen Syndrome	Hip dislocation, Pectus excavatum, Spina bifida occulta, Elbow dislocation, Hypoplastic cervical ...	OMIM:150250
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Scoliosis, Dysphagia, Hemivertebrae, Facial palsy	OMIM:614688
Kbg Syndrome	Vertebral arch anomaly, Vertebral fusion, Thoracic kyphosis, Synophrys, Epispadias, Cervical ribs...	OMIM:148050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Polyhydramnios, Dilated third ventricle, Alopecia, Sparse scalp hair, Sparse eyebr...	ORPHA:544488
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Genu varum, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Phaver Syndrome	Camptodactyly of finger, Myelomeningocele, Ventricular septal defect, Butterfly vertebrae, Pteryg...	ORPHA:2876
Congenital Gerbode Defect	Pedal edema, Bacterial endocarditis, Vascular dilatation, Ventricular septal defect, Perimembrano...	ORPHA:99095
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Spinal dysraphism, Irregular vertebral endplates, Delayed phalangeal epiphyseal ossi...	OMIM:603546
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Colonic diverticula, High palate, Kyphosis, Nodular goiter, Parathyroid hyperplasi...	OMIM:162300
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Anal atresia, Atrial septal defect, Conge...	OMIM:309801
Endosteal Hyperostosis, Worth Type	Generalized osteosclerosis, Clavicular sclerosis, Abnormal rib morphology, Sclerotic vertebral bo...	ORPHA:2790
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Spina bifida, Vertebral segmentation def...	ORPHA:1120
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating thyroid-stimulating hormone concentration, Hypogonadism, Optic atrophy, Narr...	OMIM:101800
Achondroplasia	Polyhydramnios, Genu varum, Spinal stenosis with reduced interpedicular distance, Severe platyspo...	OMIM:100800
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Flexion contracture, Elbow flexion contracture, Hip dislocation, Elbow dislocation, Short neck, D...	OMIM:210710
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Fused cervical vertebrae, Renal agenesis, Butterfly vertebrae, Unilateral ren...	OMIM:619227
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Spinal instability	OMIM:251250
Duane-Radial Ray Syndrome	Shoulder dislocation, Spina bifida occulta, Iris coloboma, Facial palsy, Vesicoureteral reflux, V...	OMIM:607323
Aarskog-Scott Syndrome	Camptodactyly of finger, High anterior hairline, Abnormality of the cervical spine, Pectus excava...	ORPHA:915
Dextrocardia	Pancreatic hypoplasia, Abnormality of the pulmonary artery, Intestinal malrotation, Congenital hi...	ORPHA:1666
Mosaic Trisomy 14	Camptodactyly of finger, High palate, Ectopic anus, Narrow chest, Hypoplasia of penis, Hypospadia...	ORPHA:1703
Permanent Congenital Hypothyroidism	Hypothyroidism, Macroglossia, Goiter, Thyroid dysgenesis, Umbilical hernia	ORPHA:226292
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Pancreatic hypoplasia, Biliary hyperplasia, Perimembranous ventricular septal defect, Coarse hair...	ORPHA:83617
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Situs inversus totalis, Dextrocardia, Right aortic arch, Goiter	OMIM:617577
Cowden Syndrome 1	Hypothyroidism, Hyperthyroidism, Colonic diverticula, Kyphosis, High palate, Thyroiditis, Hydroce...	OMIM:158350
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Abnormal mitral valve morphology, Fused ce...	ORPHA:1724
Klippel-Feil Syndrome 3, Autosomal Dominant	Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi...	OMIM:613702
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Bifid uvula, Scoliosis, Dysplastic pulmonary valve, Cleft palate	OMIM:300958
Benign Schwannoma	Abnormal parotid gland morphology, Scleral schwannoma, Schwannoma, Intestinal polyposis, Abnormal...	ORPHA:252164
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Widening of cervical spinal canal, Nemaline bodies, Cervical ...	OMIM:606842
Metatropic Dysplasia	Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Long thorax, A...	ORPHA:2635
Fg Syndrome Type 1	Abnormal large intestine morphology, Optic nerve hypoplasia, Small pituitary gland, Sacral dimple...	ORPHA:93932
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Sparse body hair, Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Hypoplasia ...	ORPHA:2234
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec...	ORPHA:95715
Ring Chromosome 8 Syndrome	Low posterior hairline, Polyhydramnios, Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Metatropic Dysplasia	Flexion contracture, Long coccyx, Delayed skeletal maturation, Enlarged joints, Arthrogryposis mu...	OMIM:156530
Trisomy 20P	Camptodactyly of finger, Ectopic anus, Abnormal autonomic nervous system physiology, Abnormality ...	ORPHA:261318
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Myelomeningocele, Encephalocele, Abnormal cardiac septum morphology, Glo...	ORPHA:90652
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density...	ORPHA:93315
Halperin-Birk Syndrome	Gastroesophageal reflux, Flexion contracture, High palate, Optic atrophy, Perimembranous ventricu...	OMIM:618651
Wolf-Hirschhorn Syndrome	Precocious puberty, Hip dislocation, Iris coloboma, Abnormal sternal ossification, Delayed skelet...	OMIM:194190
Kniest Dysplasia	Bell-shaped thorax, Short thorax, Delayed epiphyseal ossification, Arthropathy, Anterior vertebra...	ORPHA:485
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Neurogenic bladder, Perimembranous ventricular septal defect, Secundum a...	OMIM:608779
Cooper-Jabs Syndrome	Camptodactyly of finger, Ventricular septal defect, Missing ribs, Congenital diaphragmatic hernia...	ORPHA:1488
Keratoconus Posticus Circumscriptus	Vesicoureteral reflux, Recurrent urinary tract infections, Abnormal vertebral segmentation and fu...	OMIM:244600
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu varum, Biconcave vertebral bodies, Genu valgum, Thoracic kyphosis, Narrow vertebral interped...	OMIM:271510
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Noonan Syndrome 2	Atrioventricular canal defect, Polyhydramnios, Pectus excavatum, Hypertrophic cardiomyopathy, Sho...	OMIM:605275
Cardiofaciocutaneous Syndrome 4	Polyhydramnios, Curly hair, Decreased response to growth hormone stimulation test, Abnormal aorti...	OMIM:615280
Emanuel Syndrome	Truncus arteriosus, Multiple joint contractures, Ectopic anus, Bifid uvula, Dysphagia, Cleft pala...	ORPHA:96170
Baller-Gerold Syndrome	Optic atrophy, Bifid uvula, Optic nerve hypoplasia, Spina bifida occulta, Cleft palate, Lambdoida...	OMIM:218600
Infantile-Onset X-Linked Spinal Muscular Atrophy	Knee flexion contracture, Hip contracture, Spinal muscular atrophy, High palate, Short ribs, Dege...	ORPHA:1145
Kyphomelic Dysplasia	Short thorax, Anterior rib cupping, Missing ribs, Flat acetabular roof, Limitation of joint mobil...	ORPHA:1801
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Polyhydramnios, Supernumerary nipple, Pectus excavatum, Hepatoblastoma, ...	ORPHA:373
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, High palate, Atrial septal defect, Abnormality of the ureter, Joint hyperflexibility...	ORPHA:1035
Sprengel Deformity	Neck muscle hypoplasia, Rib segmentation abnormalities, Spina bifida occulta, Cervical segmentati...	OMIM:184400
Emanuel Syndrome	Truncus arteriosus, Cleft palate, Sacral dimple, Ventricular septal defect, Atrial septal defect,...	OMIM:609029
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Alopecia, Precocious puberty, Hyperthyroidism, Recurrent fractures, Abnormal testis morphology, J...	ORPHA:457059
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Thyroid hemiagenesis, Vesicoureteral reflux, Elevated circulating thyroid-s...	ORPHA:209905
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Kyphosis, Hyperextensibility of the finger joints, Mitral valve prolapse, S...	OMIM:609008
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, High palate, Abnormality of the elbow, Kyphosis, Wide anterior fontanel,...	ORPHA:3098
Noonan Syndrome 4	Hydronephrosis, Polyhydramnios, High anterior hairline, Curly hair, Ventricular septal defect, Sp...	OMIM:610733
Vacterl/Vater Association	Polyhydramnios, Abnormal cardiac septum morphology, Abnormal rib morphology, Cleft palate, Abnorm...	ORPHA:887
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Flexion contracture, High palate, Acetabular dysplasia, Nemaline bodies,...	OMIM:616549
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Flexion contracture, Thoracic hypoplasia, Pleural effusion, Hypertrophic cardiomy...	OMIM:616897
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Patent ductus arteriosus after birth at term, Ischemic stroke, Optic atrophy, Bifid uvula, Cervic...	ORPHA:500150
Mucopolysaccharidosis, Type Iva	Chondroitin sulfate excretion in urine, Lumbar kyphosis, Keratan sulfate excretion in urine, Shor...	OMIM:253000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Absent ossification...	ORPHA:226313
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa...	OMIM:274300
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Patellar dislocation, Kyphosis, Abnormality of the upper urinary tract, Hypopla...	ORPHA:2916
Fanconi Anemia, Complementation Group I	Hypothyroidism, Patent foramen ovale, Vesicoureteral reflux, Decreased response to growth hormone...	OMIM:609053
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Thoracic hemivertebrae, Fused cervical vertebrae, Type II diabetes mellitus, Anal atresia, Abnorm...	ORPHA:1436
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Narrow chest, Abnormal clavicle morphology, Short neck, Decreased skul...	ORPHA:93267
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Ascending tubular aorta aneurysm, Truncus arteriosus, Synophrys, Bifid uvula, Camptodactyly, Pect...	OMIM:612474
Noonan Syndrome 10	Patent ductus arteriosus, Sparse eyebrow, Curly hair, High palate, Ventricular septal defect, Mit...	OMIM:616564
Carpenter Syndrome 1	Precocious puberty, Lateral displacement of patellae, Optic atrophy, Camptodactyly, Spina bifida ...	OMIM:201000
Mccune-Albright Syndrome	Precocious puberty, Abnormal testis morphology, Hyperphosphaturia, Hyperplasia of the Leydig cell...	ORPHA:562
Thrombocytopenia-Absent Radius Syndrome	Atrioventricular canal defect, Patellar dislocation, Hip dislocation, Cervical ribs, Lateral clav...	OMIM:274000
Schwartz-Jampel Syndrome	Polyhydramnios, Wrist flexion contracture, Increased bone mineral density, Pectus excavatum, Elbo...	ORPHA:800
Gorlin Syndrome	Vertebral fusion, Vertebral wedging, Iris coloboma, Scoliosis, Cryptorchidism, Hypogonadotropic h...	ORPHA:377
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Radioulnar synostosis, Pectus excavatum, Ectopic kidney, Metacarpal synostosis, S...	OMIM:212780
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Patellar dislocation, Abnormal cardiac septum morphology, Abnormality of the kidney, ...	ORPHA:3320
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Atrial septal defect, Pectus excavatum, Hypertrophic cardi...	OMIM:615279
White Forelock With Malformations	Atrial septal defect, Spina bifida occulta, White forelock, Delayed skeletal maturation, Joint hy...	ORPHA:2475
Alstrom Syndrome	Tubulointerstitial nephritis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased res...	OMIM:203800
Noonan Syndrome With Multiple Lentigines	Atrioventricular canal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dil...	ORPHA:500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Recurrent fractures, Hypoplasia of penis, Hypoplastic left heart, Decr...	ORPHA:2772
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hydronephrosis, Alopecia, Flexion contracture, Vertebral hypoplasia, Abnormal cardiac septum morp...	OMIM:308050
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal dysplasia, Vertebral segmentation defect, Renal agenesis, Ectopic kidney, Short neck, Low p...	ORPHA:2578
Noonan Syndrome 7	Curly hair, Dysphagia, Impaired oropharyngeal swallow response, Atrial septal defect, Pectus exca...	OMIM:613706
Noonan Syndrome 8	Patent ductus arteriosus, Polyhydramnios, Abnormal sternum morphology, Curly hair, Ventricular se...	OMIM:615355
Cog1-Cdg	High palate, Vertebral segmentation defect, Flat acetabular roof, Butterfly vertebrae, Atrial sep...	ORPHA:263508
Prune Belly Syndrome	Patent ductus arteriosus, Congenital posterior urethral valve, Hydroureter, Anal atresia, Oligohy...	OMIM:100100
Hypothyroidism Due To Tsh Receptor Mutations	Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:90673
Noonan Syndrome 9	Sparse eyebrow, Curly hair, Ventricular septal defect, Hydroureter, Coarctation of aorta, Short n...	OMIM:616559
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Abnormality of the elbow, Abnormality of the wrist, Abnormal vertebr...	ORPHA:2319
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Clef...	OMIM:618469
Phace Syndrome	Aortic root aneurysm, Hypothyroidism, Abnormal sternum morphology, Abnormal cerebral artery morph...	ORPHA:42775
Caudal Duplication	Myelomeningocele, Spina bifida, Vertebral segmentation defect, Renal hypoplasia/aplasia, Abnormal...	ORPHA:1756
Pde4D Haploinsufficiency Syndrome	Irregular vertebral endplates, Accelerated skeletal maturation, Joint laxity, Caudal interpedicul...	ORPHA:439822
Laryngotracheoesophageal Cleft Type 4	Abnormal cardiac septum morphology, Tracheoesophageal fistula, Abnormal lower motor neuron morpho...	ORPHA:93941
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Anal atresia, Iris coloboma, Abnormal localization of kidney, Chorioret...	ORPHA:195
Brachytelephalangic Chondrodysplasia Punctata	Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ...	ORPHA:79345
Mucopolysaccharidosis, Type Iiia	Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca...	OMIM:252900
Thyroid Dyshormonogenesis 1	Umbilical hernia, Hypothyroidism, Macroglossia, Goiter	OMIM:274400
Mucopolysaccharidosis, Type X	Hyperlordosis, Genu valgum, Broad ribs, Broad clavicles, Dermatan sulfate excretion in urine, Thi...	OMIM:619698
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Recurrent fractures, Hypogonadism, Kyphosis, Hypoplasia of penis, Abnorm...	ORPHA:3409
Contractural Arachnodactyly, Congenital	Wrist flexion contracture, Patellar dislocation, Patellar subluxation, Elbow flexion contracture,...	OMIM:121050
Poland Syndrome	Spina bifida occulta, Short neck, Abnormal rib morphology, Reduced bone mineral density, Vesicour...	ORPHA:2911
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Double outlet right ventricle, Vesicoureteral reflux, Polyhydramnios, Ventricular septal defect, ...	OMIM:301056
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnormality of the elbow, Pectus excavatum,...	ORPHA:2701
Diastrophic Dysplasia	Camptodactyly of finger, Joint dislocation, Kyphosis, Increased bone mineral density, Elbow dislo...	ORPHA:628
Renpenning Syndrome	Alopecia, Decreased testicular size, Thin eyebrow, Anal atresia, Pectus excavatum, Diabetes melli...	ORPHA:3242
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Branchiootorenal Syndrome 1	Renal steatosis, Vesicoureteral reflux, High palate, Renal dysplasia, Renal malrotation, Polycyst...	OMIM:113650
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplastic tricuspid valve, Cervical ribs, Hypoplasia of right ventricle, Pulmonary artery steno...	ORPHA:2255
Cardiomyopathy, Dilated, 1S	Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t...	OMIM:613426
Achondrogenesis Type 1B	Polyhydramnios, Hydrops fetalis, Short thorax, Abnormal enchondral ossification, Narrow chest, Sh...	ORPHA:93298
Mucopolysaccharidosis Type 4	Hyperlordosis, Genu valgum, Short thorax, Joint dislocation, Kyphosis, Spinal canal stenosis, Sho...	ORPHA:582
Cat Eye Syndrome	Iris coloboma, Cleft palate, Rectal fistula, Vesicoureteral reflux, Ventricular septal defect, At...	OMIM:115470
Multiple Endocrine Neoplasia Type 1	Pituitary thyrotropic cell adenoma, Peptic ulcer, Pituitary corticotropic cell adenoma, Neoplasm ...	ORPHA:652
Frontometaphyseal Dysplasia 2	Bifid uvula, Camptodactyly, Elbow contracture, Pectus excavatum, Dislocated radial head, Hirsutis...	OMIM:617137
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Sparse body hair, Hyperlordosis, Abnormal muscle fiber morphology, Hypoplasia of penis, Limitatio...	ORPHA:3068
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Euthyroid goiter, Renal insufficiency, Nephritis	ORPHA:3327
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Joint stiffness, Abn...	ORPHA:2064
Phace Association	Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven...	OMIM:606519
Kagami-Ogata Syndrome	Patent ductus arteriosus, Polyhydramnios, Bell-shaped thorax, Flexion contracture, Diastasis rect...	OMIM:608149
Wildervanck Syndrome	Meningocele, Pseudopapilledema, Fused cervical vertebrae, Short neck, Low posterior hairline, Fac...	ORPHA:3456
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Ventricular septal defect, Renal agenesis, Anal atresia, Atrial ...	OMIM:264480
Ellis Van Creveld Syndrome	Atrioventricular canal defect, Abnormality of the ureter, Delayed skeletal maturation, Abnormal h...	ORPHA:289
Trisomy 1Q	Patent ductus arteriosus, Polyhydramnios, Camptodactyly of finger, Multicystic kidney dysplasia, ...	ORPHA:261344
Osteogenesis Imperfecta, Type Ix	Bowing of limbs due to multiple fractures, Recurrent fractures, Kyphosis, Pectus excavatum, Multi...	OMIM:259440
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Patent ductus arteriosus, Hypothyroidism, Atrioventricular canal defect, Polyhydramnios, Camptoda...	ORPHA:3047
3P25.3 Microdeletion Syndrome	Sacral dimple, Patent ductus arteriosus, Knee flexion contracture, Abnormality of thalamus morpho...	ORPHA:435638
Marden-Walker Syndrome	Camptodactyly of finger, Renal dysplasia, Bifid uvula, Pectus excavatum, Aplasia/Hypoplasia invol...	ORPHA:2461
Cantú Syndrome	Patent ductus arteriosus, Low anterior hairline, Broad ribs, Low posterior hairline, Cuboid-shape...	ORPHA:1517
Mosaic Trisomy 9	Camptodactyly of finger, Polyhydramnios, Renal dysplasia, Hip dislocation, Elbow dislocation, Sho...	ORPHA:99776
Acromesomelic Dysplasia 1	Lower thoracic kyphosis, Short nail, Joint laxity, Ovoid vertebral bodies, Limited elbow extensio...	OMIM:602875
Schinzel-Giedion Syndrome	Central hypothyroidism, Abnormal thorax morphology, Camptodactyly, Hepatoblastoma, Abnormality of...	ORPHA:798
Acrorenal-Mandibular Syndrome	Narrow palate, Abnormal sacral segmentation, High palate, Narrow chest, Polycystic kidney dysplas...	OMIM:200980
Legius Syndrome	High palate, Neurofibromas, Pectus excavatum, Supravalvar pulmonary stenosis, Short neck, Low pos...	OMIM:611431
Spondylodysplastic Ehlers-Danlos Syndrome	Ascending tubular aorta aneurysm, Flexion contracture, Patellar dislocation, Multiple joint contr...	ORPHA:536471
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Stomach cancer, Enlarged polycystic ovaries, Abnormality of the gastro...	ORPHA:2869
8P23.1 Duplication Syndrome	Ventricular septal defect, Adrenal insufficiency, Tetralogy of Fallot, Highly arched eyebrow, Pul...	ORPHA:251076
Congenitally Corrected Transposition Of The Great Arteries	Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo...	ORPHA:216694
Frontometaphyseal Dysplasia	Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Hypop...	ORPHA:1826
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect	OMIM:122850
Melnick-Needles Syndrome	Delayed cranial suture closure, Vesicoureteral reflux, Osteolytic defects of the phalanges of the...	ORPHA:2484
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak...	ORPHA:226316
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, In...	ORPHA:90674
Axial Spondylometaphyseal Dysplasia	Flared, irregular rib ends, Thoracic hypoplasia, Optic atrophy, Short ribs, Posterior wedging of ...	ORPHA:168549
Multiple Synostoses Syndrome 2	Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp...	OMIM:610017
Autosomal Dominant Progressive External Ophthalmoplegia	Hypothyroidism, Facial diplegia, Dysphagia, Facial palsy, Left ventricular hypertrophy, EMG: myop...	ORPHA:254892
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc...	OMIM:188570
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the urete...	ORPHA:1770
Penoscrotal Transposition	Pectus carinatum, Patellar aplasia, Renal dysplasia, Penoscrotal transposition, Renal agenesis, H...	ORPHA:2842
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Thoracic hemivertebrae, Fused cervical vertebrae, Anal atresia, Scoliosis, Prominent metopic ridge	OMIM:309620
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Renal hypoplasia/aplasia, Hypoplasia of penis, Oligohydramnios, Hypospadias, Abno...	ORPHA:1046
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, High palate, Mitral valve prolapse, Absent nipple, Pectus excavatum, Co...	OMIM:104350
Thyroid Dyshormonogenesis 3	Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma	OMIM:274700
Spondylocarpotarsal Synostosis Syndrome	Hyperlordosis, Vertebral fusion, C2-C3 subluxation, Capitate-hamate fusion, Block vertebrae, Vert...	OMIM:272460
Shashi-Pena Syndrome	Patent ductus arteriosus, Kyphosis, Dilation of Virchow-Robin spaces, Limb hypertonia, Synophrys,...	OMIM:617190
Noonan Syndrome 6	Polyhydramnios, Abnormal sternum morphology, Curly hair, Long eyebrows, Pectus excavatum, Hypertr...	OMIM:613224
Gm1-Gangliosidosis, Type I	Thickened ribs, Hydrops fetalis, Kyphosis, Dilated cardiomyopathy, Hypoplastic vertebral bodies, ...	OMIM:230500
Mucopolysaccharidosis, Type Ivb	Chondroitin sulfate excretion in urine, Hyperlordosis, Genu valgum, Kyphosis, Prominent sternum, ...	OMIM:253010
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypothyroidism, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Coloboma, Abnorm...	ORPHA:453499
Acrodysostosis With Multiple Hormone Resistance	Decreased response to growth hormone stimulation test, Low urinary cyclic AMP response to PTH adm...	ORPHA:280651
Graves Disease, Susceptibility To, 1	Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre...	OMIM:275000
10Q22.3Q23.3 Microduplication Syndrome	Abnormal rib morphology, Hypospadias, Tetralogy of Fallot, Abnormal clavicle morphology	ORPHA:276422
Czeizel-Losonci Syndrome	Thoracolumbar scoliosis, Ureteral agenesis, Myelomeningocele, Congenital megaureter, High palate,...	ORPHA:2437
Acro-Renal-Ocular Syndrome	Vesicoureteral reflux, Vertebral fusion, Crossed fused renal ectopia, Coloboma, Renal hypoplasia/...	ORPHA:959
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Decreased response to growth hormone sti...	OMIM:618223
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Thyroid lymphangiectasia, Pericardial effusion, Camptodactyly, Nonimmune hydrops fetalis, Pericar...	OMIM:235510
Tyshchenko Syndrome	Polyhydramnios, Narrow palate, Ventricular septal defect, High palate, Supernumerary nipple, Atri...	OMIM:615102
Thyroid Dyshormonogenesis 2A	Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T...	OMIM:274500
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Vesicoureteral reflux, Sparse lateral eyebrow, Ventricular septal defect, Recurrent urinary tract...	OMIM:619103
Thyrocerebroretinal Syndrome	Nephritis, Skeletal muscle atrophy, Goiter	OMIM:274240
Mucopolysaccharidosis, Type Iiic	Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca...	OMIM:252930
Cowden Syndrome	Colorectal polyposis, High palate, Enlarged polycystic ovaries, Kyphosis, Adenoma sebaceum, Renal...	ORPHA:201
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, 11 pairs of ribs, Ventricular septal defect, Esophageal atresia, Hypopl...	ORPHA:77298
Atelosteogenesis, Type I	11 pairs of ribs, Polyhydramnios, Bell-shaped thorax, Encephalocele, Vertebral hypoplasia, Thorac...	OMIM:108720
Laubry-Pezzi Syndrome	Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep...	ORPHA:99094
Fibrochondrogenesis 1	Patent foramen ovale, Hydrops fetalis, Thoracic hypoplasia, Thin clavicles, Anterior rib cupping,...	OMIM:228520
Shprintzen-Goldberg Craniosynostosis Syndrome	Camptodactyly, Pectus excavatum, Dislocated radial head, Lateral clavicle hook, Genu recurvatum, ...	OMIM:182212
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Patent ductus arteriosus, Polyhydramnios, Camptodactyly of finger, Hydroureter, Abnormality of th...	ORPHA:2547
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Neoplasm of the adrenal cortex, Thyroid carcinoma, Lymphedema, Arteriovenous malfo...	ORPHA:109
Lethal Congenital Contracture Syndrome Type 1	Polyhydramnios, Recurrent fractures, Abnormality of the elbow, Limitation of joint mobility, Shor...	ORPHA:1486
Anaplastic Thyroid Carcinoma	Abnormal skeletal muscle morphology, Nodular goiter, Anaplastic thyroid carcinoma, Tracheoesophag...	ORPHA:142
Stankiewicz-Isidor Syndrome	Sacral dimple, Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Pineal cy...	OMIM:617516
Chops Syndrome	Patent ductus arteriosus, Patent foramen ovale, Vesicoureteral reflux, Curly hair, Gastroesophage...	OMIM:616368
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter	OMIM:188550
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Renal agenesis, Anal atresia, Oligohydramnios, Abnormality of the endocrine sy...	OMIM:274265
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val...	ORPHA:284169
Smith-Magenis Syndrome	Hypothyroidism, Gastroesophageal reflux, Precocious puberty, Renal hypoplasia/aplasia, Synophrys,...	ORPHA:819
Mesoaxial Hexadactyly And Cardiac Malformation	Patent ductus arteriosus, Ventricular septal defect, Torticollis, Atrial septal defect, Pulmonic ...	OMIM:249670
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Medial flaring of the eyebrow, High palate, High, narrow palate, Low po...	OMIM:612863
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst, Multinodular goiter	OMIM:138790
Intellectual Developmental Disorder, Autosomal Dominant 52	Hypothyroidism, High palate, Lumbar scoliosis, Synophrys, Bilateral cryptorchidism, Cryptorchidis...	OMIM:617796
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Hydrops fetalis, Lymphedema, Abnormal thorax morp...	ORPHA:1318
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Optic atrophy	ORPHA:1513
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Polyhyd...	ORPHA:141127
Vertebral Hypersegmentation And Orofacial Anomalies	Widow's peak, Supernumerary ribs, Submucous cleft hard palate, Supernumerary nipple, Pectus excav...	OMIM:619122
Spondyloepimetaphyseal Dysplasia, Irapa Type	Genu valgum, Abnormal carpal morphology, Synostosis of carpal bones, Limitation of joint mobility...	ORPHA:93351
Ventricular Septal Defect 1	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall...	OMIM:614429
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Bifid uvula, Pectus excavatum, Optic nerve hypoplasia, Short neck, Delayed skelet...	OMIM:617506
Lamb-Shaffer Syndrome	Thoracic kyphosis, Fused cervical vertebrae, Scoliosis, Optic atrophy	ORPHA:530983
Microphthalmia, Lenz Type	Camptodactyly of finger, Hyperlordosis, Kyphosis, Renal hypoplasia/aplasia, Hydroureter, Long tho...	ORPHA:568
Pendred Syndrome	Goiter, Compensated hypothyroidism, Thyroid carcinoma	OMIM:274600
Noonan Syndrome 5	Polyhydramnios, Sparse eyebrow, Curly hair, Abnormal sternum morphology, Atrial septal defect, Fi...	OMIM:611553
Ascher Syndrome	Hypothyroidism, Upper eyelid edema, High palate, Goiter	ORPHA:1253
Van Esch-O'Driscoll Syndrome	Sacral dimple, Pulmonary valve atresia, Ventricular septal defect, Esophageal atresia, Bifid uvul...	OMIM:301030
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Oligohydramnios, Renal cyst, Hydranencephaly, Short neck, Sti...	OMIM:236500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Decreased circulating dehydroepiandrosterone-sulfate concentration, Humerora...	ORPHA:95699
Developmental Delay, Language Impairment, And Ocular Abnormalities	Myelomeningocele, Contracture of the proximal interphalangeal joint of the 5th finger, Scoliosis,...	OMIM:620141
Restrictive Dermopathy	Camptodactyly of finger, Polyhydramnios, Ascending tubular aorta aneurysm, Multiple joint contrac...	ORPHA:1662
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of the eyebrow, Kyphosis, Hypoplasia of penis, Short neck, Uncombable hair, Cr...	ORPHA:3082
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Patent ductus arteriosus, Abnormal sternum morphology, Ventricular septal defect, Short ribs, Sup...	ORPHA:2519
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Vertebral segmentation defect, Synostosis of carpal bones, Tarsal synost...	ORPHA:1836
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Tbck-Related Intellectual Disability Syndrome	Hypothyroidism, Synophrys, Pectus excavatum, Short neck, Hirsutism, Delayed skeletal maturation, ...	ORPHA:488632
Thakker-Donnai Syndrome	Ventricular septal defect, Rectovaginal fistula, Anal atresia, Tracheoesophageal fistula, Congeni...	ORPHA:1780
Mucopolysaccharidosis, Type Iiib	Ovoid thoracolumbar vertebrae, Thickened ribs, Synophrys, Asymmetric septal hypertrophy, Dense ca...	OMIM:252920
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Patent ductus arteriosus, Restrictive cardiomyopathy, Ankle clonus, High palate, Hydroureter, Pec...	OMIM:615398
Leopard Syndrome 1	Subvalvular aortic stenosis, Pectus excavatum, Spina bifida occulta, Hypertrophic cardiomyopathy,...	OMIM:151100
Cartilage-Hair Hypoplasia	Spinal dysraphism, Abnormal cardiac septum morphology, Short neck, Delayed skeletal maturation, L...	ORPHA:175
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Synostosis of carpal bones, Limitation of joint mobility, Elbow d...	ORPHA:90650
Fryns Syndrome	Polyhydramnios, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Aplasia of the left...	OMIM:229850
Noonan Syndrome 14	Polyhydramnios, Sparse eyebrow, Curly hair, Kyphosis, High, narrow palate, Mitral valve prolapse,...	OMIM:619745
Severe Congenital Nemaline Myopathy	Polyhydramnios, Flexion contracture, Edema of the dorsum of hands, Facial palsy, Abnormal thorax ...	ORPHA:171430
Aneurysm-Osteoarthritis Syndrome	Camptodactyly of finger, Osteochondritis dissecans, Bifid uvula, Pectus excavatum, Aortic dissect...	ORPHA:284984
Pediatric-Onset Graves Disease	Increased circulating T4 concentration, Accelerated skeletal maturation, Thyrotoxicosis with diff...	ORPHA:525731
Baller-Gerold Syndrome	Vesicoureteral reflux, High palate, Abnormal carpal morphology, Abnormal cardiac septum morpholog...	ORPHA:1225
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal sternum morphology, Accelerated skeletal maturation, Optic nerve hypoplasia, Unilateral ...	ORPHA:137634
Lymphangiectasia, Intestinal	Pedal edema, Prominent floating ribs, Malabsorption, Edema, Stillbirth, Abnormal hair morphology,...	OMIM:152800
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Sparse scalp hair, Flexion contracture, Testicular torsion, Kyphoscoliosis, Skele...	ORPHA:75496
Degcags Syndrome	Abnormal renal cortex morphology, Polyhydramnios, Premature graying of hair, Synophrys, Delayed s...	OMIM:619488
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Polyhydramnios, Aplasia/Hypoplasia of the tongue, Missing ribs, Joint hyperflexibility, Abnormal ...	ORPHA:2759
Neurofibromatosis-Noonan Syndrome	Abnormal thorax morphology, Hypertrophic cardiomyopathy, Cryptorchidism, Dysphagia, Pulmonic sten...	ORPHA:638
Jeune Syndrome	Abnormal sternum morphology, Short thorax, Narrow chest, Nephropathy, Abnormal clavicle morpholog...	ORPHA:474
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Polyhydramnios, Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia, Ventricular septa...	ORPHA:254534
Cenani-Lenz Syndrome	Hypothyroidism, Crossed fused renal ectopia, Renal hypoplasia/aplasia, Synostosis of carpal bones...	ORPHA:3258
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Cerebrocostomandibular Syndrome	Polyhydramnios, Thoracic hypoplasia, Cleft soft palate, Elbow flexion contracture, Posterior rib ...	OMIM:117650
3M Syndrome	Horizontal ribs, Hyperlordosis, Enlarged thorax, Short thorax, Increased vertebral height, Abnorm...	ORPHA:2616
Codas Syndrome	Ventricular septal defect, Hydroureter, Congenital hip dislocation, Delayed skeletal maturation, ...	ORPHA:1458
Rhabdomyosarcoma, Embryonal, 2	Nephroblastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Ovarian thecoma, Thyroid nodule,...	OMIM:180295
Nephronophthisis 16	Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp...	OMIM:615382
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Subvalvular aortic stenosis, Hip subluxation, Medial flaring of the eyebrow, Flexion contracture,...	OMIM:619503
Aredyld Syndrome	Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Type II diabetes mellitus, Type I diabetes m...	ORPHA:1133
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Delayed cranial suture closure, Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Decreased...	ORPHA:226307
Loeys-Dietz Syndrome 3	Aortic tortuosity, Ventricular hypertrophy, Hip osteoarthritis, Osteochondritis dissecans, Bifid ...	OMIM:613795
Diamond-Blackfan Anemia 7	Patent ductus arteriosus, Vesicoureteral reflux, Polyhydramnios, Ventricular septal defect, Secun...	OMIM:612562
Serkal Syndrome	Hypoplasia of the bladder, Ventricular septal defect, Malrotation of small bowel, Renal agenesis,...	ORPHA:139466
Occipital Horn Syndrome	Pectus excavatum, Limited elbow extension, Coarse hair, Genu valgum, Capitate-hamate fusion, Plat...	OMIM:304150
Mosaic Trisomy 16	Patent ductus arteriosus, Abnormality of the cervical spine, Ventricular septal defect, Abnormali...	ORPHA:1708
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Koolen-De Vries Syndrome Due To A Point Mutation	Hypothyroidism, Precocious puberty, Optic atrophy, Pineal cyst, Fair hair, Tracheomalacia, Primar...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hypothyroidism, Precocious puberty, Optic atrophy, Pineal cyst, Fair hair, Tracheomalacia, Primar...	ORPHA:363958
Multiple Endocrine Neoplasia Type 2	Ganglioneuromatosis, Parathyroid adenoma, Neoplasm of the liver, Abnormal tongue morphology, Mult...	ORPHA:653
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Silver-Russell Syndrome 1	Nephroblastoma, Delayed cranial suture closure, Decreased response to growth hormone stimulation ...	OMIM:180860
X-Linked Mandibulofacial Dysostosis	Aplasia/Hypoplasia of the eyebrow, High palate, Branchial anomaly, Abnormal mitral valve morpholo...	ORPHA:1131
3Q29 Microdeletion Syndrome	Subvalvular aortic stenosis, Patent ductus arteriosus, Gastroesophageal reflux, High palate, Pect...	ORPHA:65286
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum	Goiter, Primary hypothyroidism	OMIM:225040
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,...	OMIM:614262
Short-Rib Thoracic Dysplasia 12	Horizontal ribs, Polyhydramnios, Thoracic dysplasia, Short neck, Patent foramen ovale, Short thor...	OMIM:269860
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Pericardial effusion, Euthyroid hyperthyroxinemia, Increased circulatin...	ORPHA:91347
Thyroid Cancer, Nonmedullary, 4	Papillary thyroid carcinoma, Goiter, Ovarian neoplasm	OMIM:616534
Meckel Syndrome, Type 1	Camptodactyly of finger, Hypoplasia of the bladder, Abnormal cardiac septum morphology, Iris colo...	OMIM:249000
Cardiofaciocutaneous Syndrome	Optic atrophy, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Abnormal eyelash morpho...	ORPHA:1340
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Exaggerated median tongue furrow, Supernumerary nipple, Cervical ribs, Pectus exc...	OMIM:312870
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	High palate, Sprengel anomaly, Scoliosis, Abnormal rib morphology, Hemivertebrae, Abnormal form o...	ORPHA:2180
Vater/Vacterl Association	Renal dysplasia, Patent urachus, Abnormal rib morphology, Vesicoureteral reflux, Ventricular sept...	OMIM:192350
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Encephalocele, Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hypo...	ORPHA:2166
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Sparse eyebrow, Abnormal sternum morphology, Abnormal cardiac septum mo...	OMIM:616737
Sarcosinemia	Optic atrophy, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Hypersarcosinuria, Pulmonic...	ORPHA:3129
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Sprengel anomaly, Abnormality of the v...	OMIM:601076
Mucopolysaccharidosis Type 6	Genu valgum, Kyphosis, Macroglossia, Short neck, Mucopolysacchariduria, Ovoid vertebral bodies, J...	ORPHA:583
Wildervanck Syndrome	Fused cervical vertebrae, Pseudopapilledema	OMIM:314600
Deiodinase, iodothyronine, type I	Goiter, Euthyroid hyperthyroxinemia	OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect	Goiter, Euthyroid hyperthyroxinemia	OMIM:188560
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal defect, Pectus excavatum	OMIM:618499
Hurler Syndrome	Camptodactyly of finger, Cardiomyopathy, Abnormal nerve conduction velocity, Abnormality of the e...	ORPHA:93473
Postaxial Acrofacial Dysostosis	Midgut malrotation, Supernumerary vertebrae, Abnormality of the kidney, Pyloric stenosis, Radioul...	OMIM:263750
Short Rib-Polydactyly Syndrome	Horizontal ribs, Polyhydramnios, Absent or minimally ossified vertebral bodies, Thoracic hypoplas...	ORPHA:1505
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Polyhydramnios, Pericardial effusion, Hyperphosphaturia, Cortical nephro...	ORPHA:51608
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Diaphragmatic eventratio...	OMIM:601186
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Multicystic kidney dysplasia, Optic atrophy, Septo-optic dysplasia, Missing ribs,...	ORPHA:3301
Pendred Syndrome	Hypothyroidism, Thyroid carcinoma, Hyperparathyroidism, Nephropathy, Goiter	ORPHA:705
Frontoocular Syndrome	High palate, Coronal craniosynostosis, Atrial septal defect, Pectus excavatum, Pulmonic stenosis	OMIM:605321
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hypothyroidism, Cerebral edema, Abnormal autonomic nervous system physiology, Cerebral vasculitis...	ORPHA:83601
Nestor-Guillermo Progeria Syndrome	Delayed closure of the anterior fontanelle, Flexion contracture, Atherosclerosis, Osteolysis, Rib...	OMIM:614008
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	High palate, Mitral valve prolapse, Abnormal heart valve morphology, Delayed skeletal maturation,...	ORPHA:2868
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Abnormal large intestine morphology, Esophageal neoplasm, Abnormal esoph...	ORPHA:2198
Weill-Marchesani Syndrome 2	Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Flexion contract...	OMIM:608328
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ...	ORPHA:3426
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Delayed closure of the anterior fontanelle, Bifid uvula, Camptodactyly, Pectus ex...	OMIM:300373
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Hyperlordosis, Alopecia, Dystrophic toenail, Aplasia/Hypoplasia of the eyebrow, Pili torti, Hypog...	ORPHA:3253
Restrictive Dermopathy 1	Polyhydramnios, Flexion contracture, Ankylosis, Sparse eyelashes, Increased anterioposterior diam...	OMIM:275210
Cardiac Valvular Dysplasia 1	Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the...	OMIM:212093
Duane Retraction Syndrome	Anorectal anomaly, Patchy hypopigmentation of hair, Aniridia, Camptodactyly, Spina bifida occulta...	ORPHA:233
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Narrow palate, Pollakisuria, High palate, Widow's peak, Camptodactyly, Down-slo...	OMIM:227330
Blepharochalasis And Double Lip	Blepharochalasis, Goiter	OMIM:109900
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Kyphosis, Renal hypoplasia/aplasia, Butterfly vert...	ORPHA:958
Grant Syndrome	Joint dislocation, Narrow chest, Abnormality of the glenoid fossa, Sprengel anomaly, Decreased sk...	ORPHA:2097
Scleroderma	Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo...	ORPHA:801
Stüve-Wiedemann Syndrome	Sacral dimple, Hypothyroidism, Camptodactyly of finger, Flexion contracture, Genu valgum, Recurre...	ORPHA:3206
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dicarboxylic aciduria, Dilated cardiomyopathy, Dehydration	ORPHA:79159
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le...	OMIM:613239
Hypothyroidism, Congenital, Nongoitrous, 5	Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu...	OMIM:225250
Igg4-Related Thyroid Disease	Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ...	ORPHA:64744
Thyroid Lymphoma	Hypothyroidism, Hyperthyroidism, Hashimoto thyroiditis, Dysphagia, Goiter	ORPHA:97285
Charge Syndrome	Polyhydramnios, Aortic arch aneurysm, Abnormal cardiac septum morphology, Optic atrophy, Anterior...	ORPHA:138
Greenberg Dysplasia	Polyhydramnios, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Epiphyseal st...	OMIM:215140
Atelosteogenesis Type I	Polyhydramnios, Absent or minimally ossified vertebral bodies, Joint dislocation, Thoracic hypopl...	ORPHA:1190
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, High palate, Patellar aplasia, Decreased testicul...	ORPHA:96061
Congenital Heart Defects, Multiple Types, 6	Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a...	OMIM:613854
Myotubular Myopathy With Abnormal Genital Development	Polyhydramnios, Penile hypospadias, High palate, Centrally nucleated skeletal muscle fibers, Bila...	OMIM:300219
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Scoliosis, P...	OMIM:615220
Achondrogenesis, Type Ia	Polyhydramnios, Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Beaded ...	OMIM:200600
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Biconcave vertebral bodies, Bowing of limbs due to multiple fractures, Recur...	OMIM:259420
Familial Congenital Mirror Movements	Hypogonadotropic hypogonadism, Fused cervical vertebrae	ORPHA:238722
Pagod Syndrome	Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Encephalocele, Abnormal te...	ORPHA:991
Fanconi Anemia	Abnormal testis morphology, Abnormal cardiac septum morphology, Abnormal carotid artery morpholog...	ORPHA:84
Costello Syndrome	Polyhydramnios, Gastroesophageal reflux, Thickened Achilles tendon, Ventricular septal defect, Na...	ORPHA:3071
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Pectus excavatum, Hypertrophic cardiomyopathy, Short neck, Delayed skeletal matur...	OMIM:115150
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Shoulder dislocation, Genu varum, Anterior vertebral fusion, Radioulnar synostosis, Elbow disloca...	OMIM:171480
Pentalogy Of Cantrell	Absent gallbladder, Abnormal pericardium morphology, Abnormal sternum morphology, Encephalocele, ...	ORPHA:1335
Craniofacial Microsomia	Patent ductus arteriosus, Vesicoureteral reflux, Genu valgum, Multicystic kidney dysplasia, Verte...	OMIM:164210
Familial Visceral Myopathy	Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat...	ORPHA:2604
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectop...	OMIM:300707
Renal Hypoplasia	Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec...	ORPHA:93101
Thoracolaryngopelvic Dysplasia	Horizontal ribs, Bell-shaped thorax, Irregular vertebral endplates, Short ribs, Irregular chondro...	OMIM:187760
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Polyhydramnios, Thoracic hypoplasia, Severe platyspondyly, Short ribs, Decreased cranial base oss...	OMIM:151210
Noonan Syndrome 1	Hypertrophic cardiomyopathy, Short neck, Cleft palate, Ventricular septal defect, Lymphedema, Atr...	OMIM:163950
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Ascending tubular aorta aneurysm, Right atrial isomerism, Double o...	OMIM:270100
Fibrochondrogenesis	Camptodactyly of finger, Bell-shaped thorax, Broad ribs, Wide anterior fontanel, Short ribs, Narr...	ORPHA:2021
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Craniosynostosis, Herrmann-Opitz Type	Craniosynostosis, Abnormality of the upper urinary tract, Oligohydramnios, Abnormal rib morpholog...	ORPHA:2145
Chromosome 13Q33-Q34 Deletion Syndrome	Patent ductus arteriosus, Encephalocele, High palate, Anencephaly, Penoscrotal transposition, Lef...	OMIM:619148
Asymmetric Short Stature Syndrome	Fused cervical vertebrae, Lumbar scoliosis	OMIM:108450
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Fair hair, Synophrys, Hypertrophy of the urinary bladder, Short neck, Peripheral pulmonary artery...	ORPHA:280633
Chime Syndrome	Hydronephrosis, Pulmonary valve atresia, Aplastic clavicle, Ventricular septal defect, Abnormalit...	ORPHA:3474
Mucopolysaccharidosis, Type Vi	Flexion contracture, Hypoplastic acetabulae, Anterior wedging of L2, Hirsutism, Ovoid vertebral b...	OMIM:253200
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Fused cervical vertebrae, Osteolysis, Joint swelling, Osteopenia, Flaring of rib c...	OMIM:612852
Cornelia De Lange Syndrome 1	Optic atrophy, Synophrys, Elbow flexion contracture, Dislocated radial head, Reduced renal cortic...	OMIM:122470
Systemic Sclerosis	Osteolytic defects of the phalanges of the hand, Flexion contracture, Abnormal large intestine mo...	ORPHA:90291
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Horizontal ribs, Hydrops fetalis, Ventricular septal defect, Short ribs, Polycystic kidney dyspla...	OMIM:263520
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Delayed closure of the anterior fontanelle, Synophrys, Short neck, Hirsutism, Cleft palate, Thick...	OMIM:610759
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Polyhydramnios, Gastroesophageal reflux, Recurrent fractures, Short rib...	OMIM:618188
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Williams-Beuren Syndrome	Hypothyroidism, Medial flaring of the eyebrow, Coronary artery stenosis, Flexion contracture, Pre...	OMIM:194050
Pulmonic Stenosis And Deafness	Ventricular hypertrophy, Pulmonic stenosis	OMIM:178651
Oeis Complex	Vesicovaginal fistula, Congenital hip dislocation, Pelvic kidney, Cryptorchidism, Hemivertebrae, ...	OMIM:258040
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Hypothyroidism, Synophrys, Thick eyebrow, Glossoptosis, Thick hair, Aortic root ...	ORPHA:444077
Weill-Marchesani Syndrome 1	Patent ductus arteriosus, Narrow palate, Ventricular septal defect, Spinal canal stenosis, Scolio...	OMIM:277600
Diphallia	Butterfly vertebrae, Bifid penis, Atrial septal defect, Cryptorchidism, Distal urethral duplicati...	ORPHA:227
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Patent foramen ovale, Lens coloboma, Small thenar eminence, Joint contracture of the 5th finger, ...	OMIM:618914
Trisomy 18	Camptodactyly of finger, Narrow palate, Ventricular septal defect, Esophageal atresia, Spina bifi...	ORPHA:3380
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Atrial septal defect, Renal cyst, Periphe...	OMIM:610205
Hardikar Syndrome	Hypoplasia of the bladder, Cleft soft palate, Celiac disease, Pulmonary artery stenosis, Hemateme...	OMIM:301068
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:218700
Treacher-Collins Syndrome	Patent ductus arteriosus, Hypoplasia of the thymus, Encephalocele, High palate, Absent eyelashes,...	ORPHA:861
Atrial Septal Defect 2	Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal...	OMIM:607941
Rhizomelic Syndrome	Wide anterior fontanel, Hip dislocation, Pulmonic stenosis	OMIM:268250
Bangstad Syndrome	Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus	OMIM:210740
Glutaric Aciduria Iii	Hyperthyroidism, Glutaric aciduria, Goiter	OMIM:231690
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormality of the kidney, Vertebral segmentation defect, Unilateral renal agen...	ORPHA:3109
Carney Complex, Type 1	Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Schwannoma, Cardiac myxoma, Hirsutism, Th...	OMIM:160980
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec...	ORPHA:3384
Lessel-Kreienkamp Syndrome	Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux, Bicuspid aortic valve, A...	OMIM:619149
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hyperthyroidism, Rhabdomyolysis, Goiter	OMIM:188580
Osteogenesis Imperfecta, Type Xviii	Biconcave vertebral bodies, Recurrent fractures, Long eyelashes, Joint laxity, Joint hypermobilit...	OMIM:617952
Cleidocranial Dysplasia	Dystrophic toenail, Genu valgum, Recurrent fractures, Glossoptosis, High, narrow palate, Narrow c...	ORPHA:1452
Mucopolysaccharidosis Type 3	Flexion contracture, Optic atrophy, Synophrys, Hirsutism, Coarse hair, Abnormal rib morphology, D...	ORPHA:581
Fixed Subaortic Stenosis	Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter...	ORPHA:3092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Encephalocele, Optic atrophy, Calf muscle hypertrophy, Spinal rigidity, Cong...	OMIM:253800
Exstrophy-Epispadias Complex	Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the ureter, Bifid penis, Vesicoure...	ORPHA:322
Scimitar Syndrome	Truncus arteriosus, Hypoplasia of the diaphragm, Abnormal vena cava morphology, Abnormal hemidiap...	ORPHA:185
Familial Adenomatous Polyposis	Hypothyroidism, Adenocarcinoma of the small intestine, Neoplasm of the gastrointestinal tract, Ch...	ORPHA:733
Wiedemann-Rautenstrauch Syndrome	Dilatation of renal calices, Camptodactyly of finger, Optic atrophy, Synophrys, Hypoplastic verte...	ORPHA:3455
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, Polyhydramnios, Sagittal craniosynostosis, High p...	OMIM:609942
Osteogenesis Imperfecta, Type X	Genu valgum, Thoracic hypoplasia, Broad ribs, Generalized joint laxity, Multiple rib fractures, P...	OMIM:613848
Achondrogenesis, Type Ii	Horizontal ribs, Polyhydramnios, Hydrops fetalis, Short ribs, Absent vertebral body mineralizatio...	OMIM:200610
Congenital Anomalies Of Kidney And Urinary Tract 2	Back pain, Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstructio...	OMIM:143400
Cloacal Exstrophy	Vesicoureteral reflux, Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Hydroureter, Hyp...	ORPHA:93929
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Short sternum, Multicystic kidney dysplasia, Embryonal rhabdomyosarcoma, Atrial s...	OMIM:257300
Smith-Lemli-Opitz Syndrome	Atrioventricular canal defect, Polyhydramnios, Bifid tongue, Optic atrophy, Hip dislocation, Iris...	ORPHA:818
Dysosteosclerosis	Short sternum, Increased susceptibility to fractures, Delayed closure of the anterior fontanelle,...	OMIM:224300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Hip dislocation, Dis...	OMIM:271640
Fibrodysplasia Ossificans Progressiva	Alopecia, Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Ectopic ossif...	OMIM:135100
Distal Monosomy 19P13.3	Alopecia, Pulmonary valve atresia, Ventricular septal defect, Joint hyperflexibility, Umbilical h...	ORPHA:96129
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Thickened ribs, Flexion contracture, Optic atrophy, Papilledema, Abnorma...	ORPHA:217085
Lenz-Majewski Hyperostotic Dwarfism	Delayed cranial suture closure, Humeroradial synostosis, Elbow flexion contracture, Spina bifida ...	OMIM:151050
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Bifid tongue, Renal hypoplasia/aplasia, Joint stiffness, Oligoh...	ORPHA:2167
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Joint hypermobility, Pectus excavatum, Abnormal rib morp...	OMIM:602196
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Thickened ribs, Flexion contracture, Optic atrophy, Papilledema, Abnorma...	ORPHA:217093
Radio-Renal Syndrome	Multicystic kidney dysplasia, Abnormality of the elbow, Renal dysplasia, Renal hypoplasia/aplasia...	ORPHA:3015
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Polyhydramnios, Coat hanger sign of ribs, Wrist flexion contracture, Thoracic hypoplasia, Flexion...	ORPHA:254528
Polyvalvular Heart Disease Syndrome	High palate, Mitral valve prolapse, Abnormal heart valve morphology, Delayed skeletal maturation,...	ORPHA:228410
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Pulmonic stenosis, Hydronephrosis	OMIM:264140
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Protrusio acetabuli, Hypoplastic pulmonary veins, Recurrent fract...	OMIM:610682
Waardenburg Syndrome, Type 1	Supernumerary vertebrae, Myelomeningocele, Premature graying of hair, Spina bifida, Synophrys, Wh...	OMIM:193500
Limb Body Wall Complex	Thoracic hypoplasia, Abnormal thorax morphology, Spina bifida occulta, Iris coloboma, Abnormal in...	ORPHA:2369
Microphthalmia, Syndromic 2	Hypothyroidism, Flexion contracture, Adrenal insufficiency, Bifid uvula, Iris coloboma, Contractu...	OMIM:300166
Aspergillosis	Osteomyelitis, Abnormality of the kidney, Intracranial hemorrhage, Pleural effusion, Abnormal eso...	ORPHA:1163
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Spinal dysraphism, Thoracic hypoplasia, Flexion contracture, Epiphyseal stippling...	ORPHA:96334
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Cerebrofacioarticular Syndrome	Lymphedema, Caudal appendage, Camptodactyly, Anteriorly placed anus, Hypospadias, Absence of pube...	ORPHA:314679
Hyperthyroidism, Nonautoimmune	Hyperthyroidism, Increased circulating T4 concentration, Accelerated skeletal maturation, Thyroid...	OMIM:609152
Pten Hamartoma Tumor Syndrome	Thyroid carcinoma, Abnormal cerebral vein morphology, Renal cell carcinoma, Abnormality of the ki...	ORPHA:306498
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:275200
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Horizontal ribs, Neonatal death, Wide anterior fontanel, Short ribs, Long tho...	OMIM:617925
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Retinal arterial macroaneurysms, Pulmonic stenosis	OMIM:614224
Alg9-Cdg	Delayed cranial suture closure, Hypoplasia of the bladder, Pericardial effusion, Abnormal left ve...	ORPHA:79328
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Patent ductus arteriosus, Double outlet right ventricle, Unbalanced atrioventricular canal defect...	OMIM:619657
Branchial Arch Syndrome, X-Linked	High, narrow palate, High palate, Pulmonic stenosis, Cryptorchidism	OMIM:301950
Townes-Brocks Syndrome	Hypothyroidism, Abnormal cardiac septum morphology, Iris coloboma, Abnormal rib morphology, Vesic...	ORPHA:857
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Hydronephrosis, Optic atrophy, Neurogenic bladder, Hydrourete...	OMIM:222300
Kabuki Syndrome 2	Atrioventricular canal defect, Sparse lateral eyebrow, High palate, Long eyelashes, Hip dislocati...	OMIM:300867
Monosomy 9Q22.3	Nephroblastoma, Kyphosis, Accelerated skeletal maturation, Pectus excavatum, Cardiac fibroma, Sho...	ORPHA:77301
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Common atrium, Atrial septal defect, Dextrocar...	OMIM:208530
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Abnormal sternum morphology, Sparse scalp hair, Loose anagen hair, Ventricular se...	OMIM:607721
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Alopecia, Osteomyelitis, High palate, Spinal canal stenosis, Atrial septal defect, Joint hypermob...	OMIM:618282
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortic root aneurysm, Polyhydramnios, 11 pairs of ribs, Aortopulmonary window, Ventricular septal...	OMIM:620025
Combined Pituitary Hormone Deficiencies, Genetic Forms	Optic nerve hypoplasia, Delayed skeletal maturation, Decreased cervical spine mobility, Delayed p...	ORPHA:95494
Multiple Endocrine Neoplasia, Type Iia	Elevated urinary norepinephrine, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Inc...	OMIM:171400
Cockayne Syndrome Type 3	Flexion contracture, Abnormality of peripheral nerve conduction, Premature graying of hair, Prema...	ORPHA:90324
Meier-Gorlin Syndrome 1	Flexion contracture, Osteochondritis dissecans, Camptodactyly, Elbow dislocation, Absent sternal ...	OMIM:224690
Bent Bone Dysplasia Syndrome 2	Short sternum, Hypoplastic acetabulae, Short ribs, Butterfly vertebrae, Atrial septal defect, Art...	OMIM:620076
Schinzel-Giedion Midface Retraction Syndrome	Hepatoblastoma, Short neck, Sclerosis of skull base, Short sternum, Macroglossia, Atrial septal d...	OMIM:269150
Coffin-Siris Syndrome 1	Spina bifida occulta, Dislocated radial head, Delayed skeletal maturation, Cleft palate, Thick ey...	OMIM:135900
Viss Syndrome	Aortic tortuosity, Hypothyroidism, Polyhydramnios, Ascending tubular aorta aneurysm, Bifid tongue...	OMIM:619472
Multiple Pterygium-Malignant Hyperthermia Syndrome	Camptodactyly of finger, Polyhydramnios, Kyphosis, Pectus excavatum, Skeletal muscle atrophy, Sco...	ORPHA:2215
Chromosome 1P36 Deletion Syndrome, Proximal	Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ...	OMIM:619343
Meacham Syndrome	Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidney, Atrial septal defe...	OMIM:608978
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect, Limitation of joint mobility	ORPHA:3449
Campomelic Dysplasia	Polyhydramnios, Spinal dysraphism, Thoracic hypoplasia, Hip dislocation, Dislocated radial head, ...	OMIM:114290
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Sparse eyebrow, Horizontal ribs, Bell-shaped thorax, Encephalocele, Bif...	OMIM:616300
Fibrous Dysplasia Of Bone	Hyperpituitarism, Osteolysis, Testicular neoplasm, Ovarian cyst, Abnormal rib morphology, Increas...	ORPHA:249
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Upper limb muscle weakness, Cervical C2/C3 vertebral fusion	ORPHA:370010
17Q24.2 Microdeletion Syndrome	Vesicoureteral reflux, Patent ductus arteriosus after birth at term, Decreased response to growth...	ORPHA:529962
Myhre Syndrome	Precocious puberty, Abnormal cardiac septum morphology, Hypogonadism, Bifid uvula, Submucous clef...	ORPHA:2588
Thoracic Outlet Syndrome	Abnormal rib morphology, Edema, Varicose veins	ORPHA:97330
Melnick-Needles Syndrome	Delayed cranial suture closure, Osteolytic defects of the phalanges of the hand, Genu valgum, Lim...	OMIM:309350
Sotos Syndrome	Hypothyroidism, Pedal edema, Flexion contracture, Congenital posterior urethral valve, Pectus exc...	ORPHA:821
Cole-Carpenter Syndrome	Recurrent fractures, Kyphosis, Wormian bones, Scoliosis, Joint hyperflexibility, Abnormal rib mor...	ORPHA:2050
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Patent ductus arteriosus, Camptodactyly of finger, Decreased response to g...	OMIM:602782
Costello Syndrome	Polyhydramnios, Hypertrophic cardiomyopathy, Short neck, Sparse hair, Ventricular septal defect, ...	OMIM:218040
Temple-Baraitser Syndrome	Gastroesophageal reflux, Pulmonic stenosis, Atrial septal defect	OMIM:611816
Heterotaxy, Visceral, 12, Autosomal	Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven...	OMIM:619702
Medullary Thyroid Carcinoma	Nodular goiter, Pheochromocytoma, Elevated calcitonin, Dysphagia, Medullary thyroid carcinoma, Pr...	ORPHA:1332
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Coloboma, Patellar dislocation, Delayed skeletal maturation, Abnormality of the urinary system, N...	ORPHA:353281
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia...	OMIM:618780
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Thoracic hypoplasia, Renal dysplasia, Fair hair, Bifid uvula, Reduced renal corticomedullary diff...	OMIM:266920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Horizontal ribs, Thoracic hypoplasia, Bifid tongue, Renal dysplasia, Short ribs, Enlarged kidney,...	OMIM:613091
Supravalvular Aortic Stenosis	Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis	OMIM:185500
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Tracheobronchomalacia, Ventricular septal defect, Synophrys, Bifid uvula, Hip disl...	OMIM:613458
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Polyhydramnios, Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestina...	ORPHA:2241
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology, Delayed skeletal maturation	ORPHA:2643
Bladder Exstrophy	Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of...	ORPHA:93930
Khan-Khan-Katsanis Syndrome	Sacral dimple, Patent foramen ovale, Vesicoureteral reflux, Delayed closure of the anterior fonta...	OMIM:618460
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Patent ductus arteriosus, Vesicoureteral reflux, Polyhydramnios, Gastroesophageal reflux, High pa...	OMIM:614080
Chromosome 8Q22.1 Duplication Syndrome	Gastroesophageal reflux, Limitation of joint mobility, Enlarged interphalangeal joints, Interphal...	OMIM:151200
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Patent ductus arteriosus, Neonatal death, Renal dysplasia, Stage 5 chronic kidn...	OMIM:208540
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Oligohydramnios, Hypertrophic cardio...	OMIM:615415
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Kyphosis, Camptodactyly, Cryptorchidism...	OMIM:619123
Non-Acquired Panhypopituitarism	Abnormality of secondary sexual hair, Anterior pituitary hypoplasia, Decreased response to growth...	ORPHA:90695
Chronic Atrial And Intestinal Dysrhythmia	Bicuspid aortic valve, Left atrial enlargement, Intestinal pseudo-obstruction, Pulmonic stenosis	OMIM:616201
Aortic Valve Disease 2	Aortic tortuosity, Patent foramen ovale, Bicuspid aortic valve, Calcification of the aorta, Aorti...	OMIM:614823
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic s...	ORPHA:2414
Criss-Cross Heart	Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Abnormal thorax mor...	ORPHA:1461
Kagami-Ogata Syndrome	Polyhydramnios, Coat hanger sign of ribs, Bell-shaped thorax, Thoracic hypoplasia, Diastasis rect...	ORPHA:254519
Peters-Plus Syndrome	Polyhydramnios, Pectus excavatum, Iris coloboma, Short neck, Cleft palate, Ventricular septal def...	OMIM:261540
Ellis-Van Creveld Syndrome	Horizontal ribs, Genu valgum, Capitate-hamate fusion, Short ribs, Epispadias, Atrial septal defec...	OMIM:225500
Neurofibromatosis-Noonan Syndrome	Pectus excavatum of inferior sternum, Secundum atrial septal defect, Superior pectus carinatum, N...	OMIM:601321
Pulmonic Stenosis	Pulmonic stenosis	OMIM:265500
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Accelerated skeletal mat...	ORPHA:424
Antley-Bixler Syndrome	Delayed cranial suture closure, Camptodactyly of finger, Recurrent fractures, Narrow chest, Crani...	ORPHA:83
Beckwith-Wiedemann Syndrome	Hypothyroidism, Polyhydramnios, Large intestinal polyposis, Hepatoblastoma, Hypertrophic cardiomy...	ORPHA:116
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Polyhydramnios, Wrist flexion contracture, Thoracic hypoplasia, Nonimmun...	OMIM:208150
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Mitral atresia, Sparse scalp hair, Ventricular septal defect, Long eyel...	OMIM:614609
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Focal Dermal Hypoplasia	Bifid ureter, Optic atrophy, Supernumerary nipple, Spina bifida occulta, Iris coloboma, Cleft pal...	OMIM:305600
Oculocerebrocutaneous Syndrome	Alopecia, Missing ribs, Congenital hip dislocation, Iris coloboma, Congenital diaphragmatic herni...	ORPHA:1647
Wolfram Syndrome, Mitochondrial Form	Diabetes insipidus, Optic atrophy, Hydroureter, Abnormal autonomic nervous system physiology, Dia...	OMIM:598500
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Aminoaciduria, Patellar dislocation, Hip dislocation, Dehydration, Abnormal rib m...	ORPHA:534
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Abnormal number of hair ...	OMIM:618164
Baraitser-Winter Cerebrofrontofacial Syndrome	Delayed cranial suture closure, Transient ischemic attack, Hydroureter, Abnormality of the upper ...	ORPHA:2995
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypothyroidism, Precocious puberty, Optic disc pallor, Dysphagia, Nephrolithiasis, Patent foramen...	ORPHA:438213
Osteogenesis Imperfecta, Type Viii	Recurrent fractures, Kyphosis, Wide anterior fontanel, Joint laxity, Barrel-shaped chest, Multipl...	OMIM:610915
Cardiomyopathy, Familial Restrictive, 6	Ascites, Restrictive cardiomyopathy, Pulmonic stenosis, Hydrops fetalis	OMIM:619433
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Knee flexion contracture, Narrow palate, High palate, Renal d...	OMIM:608836
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Patent ductus arteriosus, Hypoplasia of the thymus, Pectus carinatum, Perianal abscess, Recurrent...	OMIM:612541
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Optic disc pallor, Wide anterior fontanel, Hydronephrosis	OMIM:618240
Hypophosphatemic Rickets, Autosomal Recessive, 2	Genu varum, Genu valgum, Hyperphosphaturia, Medullary nephrocalcinosis, Hypophosphatemic rickets,...	OMIM:613312
Hypophosphatasia	Narrow chest, Craniosynostosis, Abnormal rib morphology, Recurrent fractures	ORPHA:436
Legius Syndrome	Nephroblastoma, Abnormal sternum morphology, Mitral valve prolapse, Neurofibromas, Scoliosis, Ves...	ORPHA:137605
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Skeletal muscle atrophy, Pulmonic stenosis, Coarctation of aorta	OMIM:614300
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Pedal edema, Pericarditis, Renal interstitial immunoglobulin deposit...	ORPHA:449395
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Spinal neurofibromas, Hyperlordosis, Patent foramen ovale, Genu valgum, High palate, Ventricular ...	ORPHA:363700
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Knee flexion contracture, High anterior hairline, Genu valgum, Hip contracture, Kyphosis, Bilater...	OMIM:619194
Intellectual Developmental Disorder, Autosomal Dominant 43	Gastroesophageal reflux, High palate, Synophrys, Hirsutism, Pulmonic stenosis, Umbilical hernia	OMIM:616977
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Vascular dilatation, Hydroureter, Pyloric stenosis, Nephrolithiasis	OMIM:617219
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal rib morphology, Abnormally ossified vertebrae, Intestinal malrotation	ORPHA:3035
17Q11 Microdeletion Syndrome	Precocious puberty, Plexiform neurofibroma, Hypertrophic cardiomyopathy, Osteolysis, Multiple muc...	ORPHA:97685
Thyroid Ectopia	Hypothyroidism, Macroglossia, Abnormality of the thyroid gland, Ectopic thyroid, Umbilical hernia	ORPHA:95712
Peutz-Jeghers Syndrome	Intussusception, Gastrointestinal carcinoma, Neoplasm of the pancreas, Multiple gastric polyps, A...	OMIM:175200
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Joint stiffness, Pulmonic stenosis	OMIM:614819
Arboleda-Tham Syndrome	Optic atrophy, Secundum atrial septal defect, Pectus excavatum, Dysphagia, Cleft palate, Lower li...	OMIM:616268
Apert Syndrome	Narrow palate, Ectopic anus, Optic atrophy, Esophageal atresia, Vertebral segmentation defect, Bi...	ORPHA:87
Meckel Syndrome 12	Bilateral renal agenesis, Arrhinencephaly, Bifid uvula, Ureteral hypoplasia, Oligohydramnios, Ant...	OMIM:616258
Carney Complex	Precocious puberty, Esophageal neoplasm, Neoplasm of the pancreas, Hepatocellular carcinoma, Foll...	ORPHA:1359
Trichohepatoenteric Syndrome 1	Polyhydramnios, Curly hair, Trichorrhexis nodosa, Ventricular septal defect, Avascular necrosis o...	OMIM:222470
Microphthalmia, Syndromic 1	Camptodactyly, Pectus excavatum, Iris coloboma, Optic disc coloboma, Lumbar hyperlordosis, Down-s...	OMIM:309800
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff...	ORPHA:99819
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Coloboma, Patellar dislocation, Abnormal subclavian artery morphology, Abnormalit...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Coloboma, Patellar dislocation, Abnormal subclavian artery morphology, Abnormalit...	ORPHA:353277
Familial Osteodysplasia, Anderson Type	Increased susceptibility to fractures, Aplastic clavicle, Recurrent fractures, Kyphosis, Missing ...	ORPHA:2769
Congenital Tufting Enteropathy	Elevated fecal osmolality, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal...	ORPHA:92050
Intellectual Developmental Disorder, Autosomal Dominant 45	Pulmonic stenosis, Scoliosis	OMIM:617600
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Pulmonic stenosis, Protruding tongue, Scoliosis	OMIM:614325
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Pericardial effusion, Patent urachus, Unilateral cryptorchidism, Biventri...	OMIM:618280
Brittle Cornea Syndrome	Increased susceptibility to fractures, Abnormality of hair pigmentation, Mitral valve prolapse, C...	ORPHA:90354
Leigh Syndrome With Cardiomyopathy	Abnormality of thalamus morphology, Renal tubular acidosis, Optic atrophy, Renal dysplasia, Abnor...	ORPHA:70474
Adams-Oliver Syndrome 5	Patent foramen ovale, Dystrophic toenail, Right ventricular hypertrophy, Esophageal varix, Right ...	OMIM:616028
Dysmyelination With Jaundice	Hydroureter, Hydronephrosis, Hypoplasia of penis, Cryptorchidism	OMIM:224250
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Fair hair, Sparse eyelashes, Cleft palate, Hypoplastic sacrum, Vesicoureteral re...	OMIM:604292
Duodenal Neuroendocrine Tumor	Intestinal fistula, Increased circulating ACTH level, Insulinoma, Edema, Zollinger-Ellison syndro...	ORPHA:100076
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Patent ductus arteriosus, Atrioventricular canal defect, Polyhydramnios, Horizontal ribs, Short r...	OMIM:617088
Vici Syndrome	High palate, Renal tubular acidosis, Optic atrophy, Ureteral atresia, Joint stiffness, Cardiomyop...	ORPHA:1493
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Secundum atrial septal defect, Bifid uvula, Short neck, Skeletal muscle atrophy, Low posterior ha...	OMIM:615802
Mowat-Wilson Syndrome	Broad eyebrow, Supernumerary nipple, Pectus excavatum, Pulmonary artery sling, Iris coloboma, Pul...	OMIM:235730
Mandibulofacial Dysostosis With Alopecia	Alopecia, Bicuspid aortic valve, Hydroureter, Sparse eyelashes, Glossoptosis, Cleft palate	OMIM:616367
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Scoliosis, Cryptorchidism, Abnormal rib morphology, Cleft palate, Joint stif...	ORPHA:1300
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Monosomy 9P	High palate, Low posterior hairline, Synophrys, Limitation of joint mobility, Congenital diaphrag...	ORPHA:261112
Penile Agenesis	Anorectal anomaly, Absent penis, Ventricular septal defect, Bilateral renal agenesis, Urethral fi...	ORPHA:49
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Vertebrobasilar dolichoectasia, Abnormality of the kidney, Thyroid hypoplasia, Prominent metopic ...	ORPHA:521445
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301035
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow chest, Accelerated skeletal maturation, Delayed skeletal maturation, Platyspondyly, Abnorm...	ORPHA:93317
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Short neck, Delayed skeletal maturation, Osteopenia, Sternocleidomastoid am...	ORPHA:488434
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Oligohydramnios, Intestinal malrotation, Fetal megacystis, Generalized edema	OMIM:249210
Toriello-Lacassie-Droste Syndrome	Polyhydramnios, Aganglionic megacolon, Epispadias, Abnormality of the bladder, Abnormality of the...	ORPHA:3339
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Ventricular septal defect, Bilateral renal agenesis, Rena...	ORPHA:411709
Raine Syndrome	Thoracic hypoplasia, High palate, Hydroureter, Increased bone mineral density, Pectus excavatum, ...	OMIM:259775
Mowat-Wilson Syndrome	Flexion contracture, Abnormal cardiac septum morphology, Broad eyebrow, Bifid uvula, Camptodactyl...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Flexion contracture, Broad eyebrow, Bifid uvula, Camptodactyly, Abnormality of the pulmonary arte...	ORPHA:261537
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Hyperthyroidism, Colorectal polyposis, Thyroid carcinoma, Renal cell c...	ORPHA:276399
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect	OMIM:619239
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Optic nerve compression, Nodular goiter, Thyroiditis, Myositis, Abn...	ORPHA:79078
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Short neck, Delayed skeletal maturation, Abnormality of the urinary system, Cleft pa...	ORPHA:2636
Vesicoureteral Reflux 3	Polyhydramnios, Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicour...	OMIM:613674
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Vascular dilatation, Pulmonic stenosis, Camptodactyly, Joint hypermobility, Aortic dissection, Va...	OMIM:618343
Cardiac Valvular Dysplasia 2	Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ...	OMIM:620067
Ileal Neuroendocrine Tumor	Intestinal fistula, Increased serum serotonin, Edema, Zollinger-Ellison syndrome, Small intestine...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Intestinal fistula, Increased serum serotonin, Edema, Zollinger-Ellison syndrome, Small intestine...	ORPHA:100077
Autosomal Recessive Malignant Osteopetrosis	Optic nerve compression, Recurrent fractures, Narrow chest, Bone pain, Abnormal pulmonary valve m...	ORPHA:667
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Cryptorchidism, Enuresis, Urethral valve, Urethr...	OMIM:236730
Chromosome 17Q12 Deletion Syndrome	Sparse eyebrow, Multicystic kidney dysplasia, Hypoplasia of the bladder, High palate, Recurrent u...	OMIM:614527
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Flexion contracture, Optic atrophy, Broad eyebrow, Bifid uvula, Camptodactyly, Abnormality of the...	ORPHA:261552
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Polyhydramnios, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Optic disc coloboma, ...	OMIM:270420
Elsahy-Waters Syndrome	High palate, Abnormality of the anus, Synophrys, Bilateral cryptorchidism, Bifid uvula, Pectus ex...	OMIM:211380
Cowden Syndrome 7	Ductal carcinoma in situ, Intestinal polyposis, Hashimoto thyroiditis, Papillary thyroid carcinom...	OMIM:616858
Epidermolysis Bullosa Simplex With Pyloric Atresia	Polyhydramnios, Renal duplication, Flexion contracture, Congenital pyloric atresia, Aplasia of th...	ORPHA:158684
Adams-Oliver Syndrome 1	Alopecia, Encephalocele, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, ...	OMIM:100300
Hereditary Orotic Aciduria	Patent ductus arteriosus, Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid c...	ORPHA:30
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Bilateral renal agenesis, Arrhinencephaly, Optic nerve hypoplasia, Renal hypop...	OMIM:617914
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormality of the bladder, Dehydration, Alopecia, Multicystic kidney dysplas...	ORPHA:79404
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Dystrophic toenail, Abnormal preputium morphology, Abnormality of the ga...	ORPHA:2907
Junctional Epidermolysis Bullosa With Pyloric Atresia	Polyhydramnios, Renal duplication, Congenital pyloric atresia, Renal dysplasia, Urethral strictur...	ORPHA:79403
Monosomy 13Q34	Horizontal eyebrow, Pulmonic stenosis, Osteochondrosis, Common atrium, Hematochezia, Fetal pyelec...	ORPHA:96168
Acquired Von Willebrand Syndrome	Hematuria, Intracranial hemorrhage, Melena, Gastrointestinal hemorrhage, Gastrointestinal angiody...	ORPHA:99147
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Humeroradial synostosis, Elbow flexion contracture, Hip dislocation, Short neck, Aplasia/Hypoplas...	OMIM:276820
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, High, narrow palate, Bifid uvula, H...	ORPHA:2554
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Pyknoachondrogenesis	Horizontal ribs, Unossified sacrum, Enlarged thorax, Short thorax, Short ribs, Poorly ossified ve...	ORPHA:3003
Ulbright-Hodes Syndrome	Ovoid thoracolumbar vertebrae, Short sternum, High palate, Humeroradial synostosis, Short ribs, P...	ORPHA:3404
Thyroid Hypoplasia	Hypothyroidism, Thyroid hypoplasia, Macroglossia	ORPHA:95720
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Fair hair, Sparse eyelashes, Cleft palate, Sparse hair, Vesicoureteral reflux, S...	OMIM:129900
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Thyroid C cell hyperplasia, Histiocytoid cardiomyopathy	OMIM:300952
White-Kernohan Syndrome	Hypothyroidism, Horizontal eyebrow, Gastroesophageal reflux, Hydroureter, Synophrys, Rectovaginal...	OMIM:619426
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An...	ORPHA:2973
Nephrogenic Diabetes Insipidus	Polyhydramnios, Hyposthenuria, Enuresis nocturna, Hypernatremic dehydration, Hydroureter, Renal i...	ORPHA:223
Adenine Phosphoribosyltransferase Deficiency	Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro...	OMIM:614723
Mckusick-Kaufman Syndrome	Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacol...	OMIM:236700
Kindler Epidermolysis Bullosa	Camptodactyly of finger, Flexion contracture, Esophageal stricture, Abnormality of the anus, Phim...	ORPHA:2908
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Uric acid nephrolithiasis, High palate, Gout, Hypospadias, Peripheral axonal neurop...	OMIM:300661
Ventriculomegaly With Defects Of The Radius And Kidney	Vascular dilatation, Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication	OMIM:602200
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia of scalp, Alopecia, Nail dystrophy, Multinodular goiter	OMIM:618373
Meckel Syndrome	Pancreatic cysts, Urethral atresia, Multicystic kidney dysplasia, Encephalocele, Aplasia/Hypoplas...	ORPHA:564
Castleman Disease	Restrictive cardiomyopathy, Renal insufficiency, Abnormality of the gastrointestinal tract, Hemat...	ORPHA:160
Keutel Syndrome	Ventricular septal defect, Epiphyseal stippling, Pulmonary artery hypoplasia, Costal cartilage ca...	OMIM:245150
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Alopecia, Kyphosis, Abnormality of the kidney, Abnormality of the upper ...	ORPHA:2273
Proboscis Lateralis	Patent ductus arteriosus, Ureteral agenesis, Abnormal location of the eyebrow, Abnormal eyebrow m...	ORPHA:141099
Watson Syndrome	Neurofibromas, Pectus carinatum, Pulmonic stenosis	OMIM:193520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Polyhydramnios, Hydroureter, Microcolon, Megacystis, Neonatal death, Fetal megacystis, Hydronephr...	OMIM:619362
Atresia Of Urethra	Vesicoureteral reflux, Renal dysplasia, Recurrent urinary tract infections, Hydroureter, Bladder ...	ORPHA:105
Caudal Duplication Anomaly	Ureteral duplication	OMIM:607864
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Early Infantile Epileptic Encephalopathy	Precocious puberty, Ventricular septal defect, Renal dysplasia, Ureterocele, Cleft palate, Microp...	ORPHA:1934
Skin Creases, Congenital Symmetric Circumferential, 2	Synophrys, Pectus excavatum, Hypospadias, Short neck, Ureterocele, Cryptorchidism, Cleft palate, ...	OMIM:616734
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Oligohydramnios, Diabetes mellitus, Pancr...	ORPHA:261265
Hypouricemia, Renal, 1	Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Sparse hair, Ventricular septal defect	OMIM:615508
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Microcolon, Oligohydramnios, Intestinal malrotation, Megacystis, Hydronephrosis	OMIM:619431
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Anuria, Acute kidney injury, Hemoglobinuria, Intussusception, Dehydration...	ORPHA:90038
Fraser Syndrome 3	Ureteral agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hypoplasia of penis, Noni...	OMIM:617667
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Anteriorly placed anus, Horseshoe kidney, Bla...	OMIM:600057
Peroxisome Biogenesis Disorder 4B	Adrenal insufficiency, Decreased nerve conduction velocity, Ureterocele, Optic atrophy	OMIM:614863
Primary Hyperoxaluria Type 2	Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ...	ORPHA:93599
Scalp-Ear-Nipple Syndrome	Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Type I diabetes me...	ORPHA:2036
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism, Duplication of renal pelvis, Thick eyebrow, High, narrow palate, Ureteral duplica...	ORPHA:457212
Bardet-Biedl Syndrome 12	Hydroureter, Cystic renal dysplasia, Hypogonadism, Hydronephrosis	OMIM:615989
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Chand Syndrome	Hydroureter, Curly hair, Bifid tongue, Cleft palate	ORPHA:1401

Histopathology

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

There is no histopathology data for Cir1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cir1.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Cir1^{tm3a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Cir1^{tm3a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Cir1^{tm3a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Cir1^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Cir1^{tm3a(KOMP)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Cir1^{tm3a(KOMP)Wtsi}	PMC5159622

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MGI Allele	Allele Type	Produced
Cir1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Cir1^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cir1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cir1^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Cir1^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Cir1^{tm3a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Cir1 MGI:1914185

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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DSS Histology

Anti-nuclear antibody assay

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Cir1 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data