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Gene: Atp11a MGI:1354735

Gene Summary

Name:

ATPase, class VI, type 11A

Synonyms:

LOC100045280, 4930558F19Rik, 9130422H11Rik, Ih

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	Allele	Zyg	Life Stage	P Value
abnormal retina morphology	Atp11a^{tm1e(KOMP)Wtsi}	HET	Early adult	9.25×10^-06
increased bone mineral density	Atp11a^{tm1e(KOMP)Wtsi}	HET	Early adult	3.08×10^-05
preweaning lethality, complete penetrance	Atp11a^{tm1e(KOMP)Wtsi}	HOM	Early adult	0.00
decreased circulating cholesterol level	Atp11a^{tm1e(KOMP)Wtsi}	HET	Early adult	1.21×10^-05
decreased circulating HDL cholesterol level	Atp11a^{tm1e(KOMP)Wtsi}	HET	Early adult	1.81×10^-05
increased leukocyte cell number	Atp11a^{tm1e(KOMP)Wtsi}	HET	Early adult	2.22×10^-07

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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Anti-nuclear antibody assay

Images

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Atp11a^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

View all 106 images

Atp11a^{tm1a(KOMP)Wtsi}
fused cornea and lens, HET, Female, WTSI

Atp11a^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

Atp11a^{tm1a(KOMP)Wtsi}
fused cornea and lens, HET, Male, WTSI

Atp11a^{tm1a(KOMP)Wtsi}
abnormal retinal pigmentation, HET, Male, WTSI

View all 8 images

Atp11a^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Atp11a^{tm1a(KOMP)Wtsi}
HOM, Male, WTSI

Atp11a^{tm1a(KOMP)Wtsi}
HOM, Female, WTSI

Atp11a^{tm1a(KOMP)Wtsi}
tail skin, WT, Male, WTSI

Human diseases caused by Atp11a 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 Atp11a (4 diseases)
Human diseases predicted to be associated with Atp11a (647 diseases)

The table below shows human diseases associated to Atp11a by orthology or direct annotation.

Disease	Matching phenotypes	Source
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract, Flexion contra...	OMIM:619851
Idiopathic Pulmonary Fibrosis	Clubbing of fingers, Pulmonary insufficiency	ORPHA:2032
Deafness, Autosomal Dominant 84		OMIM:619810
Auditory Neuropathy, Autosomal Dominant 2		OMIM:620384

The table below shows human diseases predicted to be associated to Atp11a by phenotypic similarity.

Disease	Matching phenotypes	Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Epicanthus, ...	OMIM:601927
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol...	OMIM:615558
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Wide nose, Overriding aorta, Bicuspid aor...	ORPHA:477817
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Depressed nasal bridge, Choanal atresia, Bicuspid aortic valve, Ventricu...	ORPHA:284169
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Unilateral ptosis, Overriding aorta, Frontal hirsutism, Cryptorchidism, Patent ductus arteriosus,...	ORPHA:3304
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones, Optic atrop...	OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric...	OMIM:241520
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis inv...	ORPHA:371428
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor...	ORPHA:860
Phaver Syndrome	Broad hallux phalanx, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Camptodactyl...	ORPHA:2876
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Torticollis, Ventricular septal defect, Overlapping fingers...	OMIM:617022
Buschke-Ollendorff Syndrome	Osteopoikilosis, Flexion contracture, Joint stiffness	OMIM:166700
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Thoracic scoliosis, Bicuspid aortic valve, Coloboma, Abnormal optic disc morph...	ORPHA:508498
Transaldolase Deficiency	Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Coarctat...	ORPHA:101028
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ...	OMIM:617021
Ossification Of The Posterior Longitudinal Ligament Of Spine	Ectopic ossification, Increased bone mineral density	OMIM:602475
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Osteopetrosis, Autosomal Recessive 9	Papilledema, Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulati...	OMIM:620366
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Polyhydramnios, Edema...	ORPHA:363705
16P13.11 Microduplication Syndrome	Ventricular septal defect, Arachnodactyly, Craniosynostosis, Pectus excavatum, Coarctation of aor...	ORPHA:261243
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Hepatomegaly, Ventricular septal defect, Splenomegaly, Coarctation of aorta, L...	OMIM:620210
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Epicanthus, Ventricular septal defect, Overlapping toe, Patent foramen ...	OMIM:618494
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic...	OMIM:136300
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Decreased fetal movement, Epicanthus, Sparse eyelashes, Rocker bottom foot, Polyhydramnios, Taper...	OMIM:620070
Mosaic Trisomy 1	Thoracic scoliosis, Congenital diaphragmatic hernia, Polyhydramnios, Congenital bilateral ptosis,...	ORPHA:1692
Tricuspid Atresia	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri...	ORPHA:1209
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Depressed nasal bridge, Ventricular septal defect, Splenomegaly, Pate...	OMIM:606003
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Laterally extended eyebrow, Short 2nd finger, Ventricular septal defect, Broad hallux, Highly arc...	OMIM:600987
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Spina bifida, Pr...	ORPHA:1120
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Anteverted nares, Paroxysmal supraventricular tachycardia, Sandal gap, Pectus e...	OMIM:617877
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Decreased fetal movement, Edema, Cryptorchidism, Patent ductus arteriosus, Thromboc...	OMIM:608104
Coarctation Of Aorta	Hypoplastic left heart, Coarctation of aorta	OMIM:120000
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Increased bone mineral density, Optic atrophy, Craniosynostosis	ORPHA:178377
Septopreoptic Holoprosencephaly	Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anterior hypopituitarism, Cent...	ORPHA:280195
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Telecanthus, Tricuspid regurgitation, Depressed nasal bridge, Dextrocardia, Supernumerary nipple,...	OMIM:618929
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Rubinstein-Taybi Syndrome 1	Premature thelarche, Prominent nose, Bilateral cryptorchidism, Polyhydramnios, Flexion contractur...	OMIM:180849
Osteopetrosis, Autosomal Recessive 4	Optic disc pallor, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenome...	OMIM:611490
Fg Syndrome Type 1	Prominent nose, Abnormal sternum morphology, Atrial septal defect, Finger syndactyly, Premature b...	ORPHA:93932
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Facial capillary hemangioma, Lateral clavicle hook, Edema of the dor...	OMIM:274000
Lowry-Maclean Syndrome	Corneal opacity, Choanal atresia, Congenital diaphragmatic hernia, Delayed eruption of primary te...	ORPHA:2409
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Intellectual Developmental Disorder, Autosomal Dominant 21	Epicanthus, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Long eyelashes, Atria...	OMIM:615502
Noonan Syndrome 2	Polyhydramnios, Pectus carinatum, Abnormal sternum morphology, Atrial septal defect, Atrioventric...	OMIM:605275
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Opt...	ORPHA:3152
Sandestig-Stefanova Syndrome	Decreased fetal movement, Laterally extended eyebrow, Epicanthus, Prominent metopic ridge, Rocker...	OMIM:618804
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Myofibrillar Myopathy 11	Decreased fetal movement, Centrally nucleated skeletal muscle fibers, Z-band streaming, Coarctati...	OMIM:619178
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Sotos Syndrome	Decreased fetal movement, Anteverted nares, Depressed nasal bridge, Ventricular septal defect, Br...	OMIM:117550
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Epicanthus, Cataract, Facial palsy, Wide nasal bridge, Coarctation of ...	ORPHA:2780
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Pectus carinatum, Coarse hair, Atrial septal defect, Sparse hair, Patent foramen ...	OMIM:617506
Catel-Manzke Syndrome	Joint dislocation, Pectus carinatum, Clinodactyly of the 5th finger, Short metacarpal, Overriding...	OMIM:616145
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Jacobsen Syndrome	Microcornea, Eyelid coloboma, Agenesis of corpus callosum, Iris coloboma, Broad columella, Long h...	ORPHA:2308
Noonan Syndrome 10	Prominent corneal nerve fibers, Pectus carinatum, Atrial septal defect, Sparse eyebrow, Cryptorch...	OMIM:616564
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Coarctation of aorta, Bell-shaped tho...	OMIM:614857
Apert Syndrome	Limited elbow movement, Pectus carinatum, Cutaneous finger syndactyly, Choanal stenosis, Shallow ...	OMIM:101200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Elevated circulating C-reactive protein concentration	OMIM:619398
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Pa...	OMIM:618454
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered fing...	OMIM:617159
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Peroxisome Biogenesis Disorder 3B	Retinal dystrophy, Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, R...	OMIM:266510
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Com...	OMIM:264480
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Epicanthus, Depressed nasal bridge, Ventricular septal defect, Decreased re...	OMIM:614114
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H...	OMIM:231095
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Overriding aorta, Prominent nasal bridge, Abnormal aortic arch morphology, Arteriovenous malforma...	ORPHA:1110
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Restrictive Dermopathy	Multiple joint contractures, Premature delivery because of cervical insufficiency or membrane fra...	ORPHA:1662
Hypoplastic Left Heart Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta	OMIM:241550
Noonan Syndrome 9	Curly hair, Ventricular septal defect, Prominent corneal nerve fibers, Sparse eyebrow, Cryptorchi...	OMIM:616559
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Depressed nasal bridge, Ventricular septal defect, Abnormality o...	ORPHA:3426
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot...	OMIM:246700
Phace Syndrome	Cerebral arteriovenous malformation, Sclerocornea, Lens coloboma, Abnormal sternum morphology, Ca...	ORPHA:42775
Chromosome 9P Deletion Syndrome	Atrial septal defect, Long toe, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, ...	OMIM:158170
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Depressed nasal bridge, Anteverted nares, Ventricular...	OMIM:244450
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Epicanthus, Left-to-right shunt, Overlapping toe, Long nose, Dysplastic corpus callosum, Patent d...	ORPHA:363444
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri...	OMIM:300855
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Prominent nose, Partial agenesis of the corpus callosum, Flexion contracture, Preaxia...	OMIM:210710
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Micr...	ORPHA:508488
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Dehydration, Coarctation of aorta, Hypertension, Long eyelashes	OMIM:616069
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o...	ORPHA:2790
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta	OMIM:601612
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Papilledema, Cortical sclerosis, Craniofacial osteosclerosis, Optic at...	OMIM:122860
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow...	OMIM:619503
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Macular coloboma, Facial palsy, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch	OMIM:107550
Snijders Blok-Campeau Syndrome	Epicanthus, Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Astigmat...	OMIM:618205
Alg12-Cdg	Polyhydramnios, Edema, Proximal placement of thumb, Abnormal peripheral nervous system morphology...	ORPHA:79324
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Secundum atrial septal def...	OMIM:214800
Alg3-Cdg	Cataract, Abnormality of the nose, Abnormality of the endocrine system, Metaphyseal chondrodyspla...	ORPHA:79321
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Thickened nuchal skin fold, Epicanthus, Abnormal number of hair whorls, Mitral atresia, Patent du...	OMIM:618164
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Ventricular septal defect, Arachnodactyly, Congenital diaphragmati...	OMIM:617602
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Premature birth, Maternal diabetes, Abnormality of the nos...	ORPHA:1708
Kabuki Syndrome 2	Natal tooth, Epicanthus, Prominent fingertip pads, Brachydactyly, Highly arched eyebrow, Broad na...	OMIM:300867
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Asplenia, Aqueductal stenosis, Biliary ...	OMIM:306955
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular septal defec...	OMIM:620135
Osteochondrosis Of The Metatarsal Bone	Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness	ORPHA:564003
Houge-Janssens Syndrome 3	Epicanthus, Broad nasal tip, Muscular ventricular septal defect, Atrial septal defect, Umbilical ...	OMIM:618354
Neu-Laxova Syndrome 1	Polyhydramnios, Fetal akinesia sequence, Micromelia, Calcaneovalgus deformity, Depressed nasal ri...	OMIM:256520
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing...	ORPHA:185
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Polyhydramnios, Abnormality of the thyroid gland, Coa...	ORPHA:1923
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Asplenia, Clinodactyly, Agenesis of corpus callosum,...	OMIM:249000
Orofaciodigital Syndrome Vi	Tibial bowing, Agenesis of corpus callosum, Hamartoma of tongue, Central Y-shaped metacarpal, Hyp...	OMIM:277170
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Acrocardiofacial Syndrome	Joint dislocation, Finger syndactyly, Hallux valgus, Hyperthyroidism, Mitral stenosis, Ventricula...	ORPHA:2008
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Alagille Syndrome 1	Long nose, Microcornea, Papillary thyroid carcinoma, Atrial septal defect, Abnormal anterior cham...	OMIM:118450
Hypermethioninemia Due To Adenosine Kinase Deficiency	Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe...	OMIM:614300
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc...	OMIM:614921
Microphthalmia, Syndromic 9	Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Blepharophimosi...	OMIM:601186
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Mueller-Weiss Syndrome	Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A...	ORPHA:566943
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Low anterior hairline, Low posterior hairline, Congenital bilateral pt...	ORPHA:73272
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Epicanthus, Telecanthus, Decreased response to growth hormone stimulation test, Patent ductus art...	OMIM:617260
Toriello-Carey Syndrome	Telecanthus, Aganglionic megacolon, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Par...	ORPHA:3338
Cardiac Septal Defects With Coarctation Of The Aorta	Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta	OMIM:212090
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Prominent nose, Synophrys, Atrial septal defect, Prominent fingertip pads,...	OMIM:612474
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Low anterior hairline, Reticulocytopenia, Leukopeni...	ORPHA:124
Mosaic Variegated Aneuploidy Syndrome	Polyhydramnios, Depressed nasal ridge, Neoplasm, Holoprosencephaly, Atrial septal defect, Clinoda...	ORPHA:1052
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration	OMIM:109130
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Hypoplasia of the ulna, Mi...	ORPHA:3186
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Anteverted nares, Highly arched eyebrow, Cryptorchidism, Synophrys, Conotru...	ORPHA:96147
Melorheostosis	Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in...	ORPHA:2485
Kleefstra Syndrome	Delayed eruption of teeth, Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Su...	ORPHA:261494
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Hip dislocation, Development...	OMIM:618651
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly	OMIM:619170
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Premature birth, Polyhydramnios, Fetal ascites, Micromelia, Flared metaph...	OMIM:215045
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Hydrops fetalis, Narrow chest, Distal shortening of limbs, Short metacarpal, Ante...	ORPHA:50945
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Cataract, Congenital diaphragmatic hernia, Sclerocor...	OMIM:309801
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Diamond-Blackfan Anemia 1	Depressed nasal ridge, Reticulocytopenia, Narrow chest, Triphalangeal thumb, Neutropenia, Atrial ...	OMIM:105650
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Depressed nasal bridge, Supernumerary nipple, Lymphedema, ...	OMIM:600268
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Hydrocephalus, Hydrops fetalis, Coarc...	ORPHA:268249
Meacham Syndrome	Bicuspid aortic valve, Atrial septal defect, Neonatal death, Scimitar anomaly, Diaphragmatic even...	OMIM:608978
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Agenesis of corpus c...	ORPHA:2745
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pancreatic hypoplasia, Hy...	OMIM:600001
Encephalocraniocutaneous Lipomatosis	Alopecia, Abnormal nasolacrimal system morphology, Corneal opacity, Neoplasm of the skeletal syst...	ORPHA:2396
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Posterior rib fusion, At...	OMIM:265380
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Flexion contracture, Abnormal aortic arch morphology, Tibial bowing, Narrow chest...	ORPHA:96334
Birk-Aharoni Syndrome	Macrocytic anemia, Cryptorchidism, Muscular ventricular septal defect, Long nasal bridge, Thick e...	OMIM:620071
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Polyhydramnios, Fetal akinesia sequence, Congenital con...	OMIM:208150
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ...	OMIM:217095
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia	ORPHA:37748
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Patent foramen ovale, Anteverted nares, Hy...	OMIM:157800
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis	OMIM:607634
Placental Insufficiency	Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta, Ab...	ORPHA:439167
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Epicanthus, Spina bifida, Broad nasal tip, Tapered finger, Cyst of the ductus choled...	OMIM:619480
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Hamartoma of tongue, Complete atrioventricular canal defect, Postaxial hand polydac...	OMIM:217085
Fanconi Anemia, Complementation Group B	Hypergonadotropic hypogonadism, Ventricular septal defect, Aplastic anemia, Absent thumb, Patent ...	OMIM:300514
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Epicanthus, Depressed nasal bridge, Polyhydramnios, Postaxial polydactyly, Splenome...	OMIM:617088
Pallister-Hall Syndrome	Adrenal hypoplasia, Depressed nasal ridge, Gonadotropin deficiency, Holoprosencephaly, Atrial sep...	ORPHA:672
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Myhre Syndrome	Sparse hair, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardial effusion, Cryptorchi...	OMIM:139210
Trichodentoosseous Syndrome	Increased bone mineral density	OMIM:190320
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Thrombocytopenia, ...	OMIM:259700
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Wide nose, Skeletal muscle atrophy, Elevated circulating aspartate aminotransferase...	OMIM:608779
Smith-Lemli-Opitz Syndrome	Micromelia, Facial capillary hemangioma, Proximal placement of thumb, Partial agenesis of the cor...	OMIM:270400
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene...	ORPHA:53
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Prolonged QT interval, Bilateral cryptorchidism, Microvesicular he...	ORPHA:66634
Robinow Syndrome	Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Depressed nasal bridge, Anteverted na...	ORPHA:97360
Williams Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Myocardial infarction...	ORPHA:904
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Epicanthus, Premature birth, Synophrys, Abnormality of the elbow, Abnormal rib...	ORPHA:3268
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Atri...	OMIM:301068
Maternal Phenylketonuria	Epicanthus, Anteverted nares, Ventricular septal defect, Bifid distal phalanx of the thumb, Bilat...	ORPHA:2209
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy...	OMIM:239000
Nicolaides-Baraitser Syndrome	Dry hair, Enlarged joints, Low anterior hairline, Short metatarsal, Prominent interphalangeal joi...	OMIM:601358
Mullegama-Klein-Martinez Syndrome	Depressed nasal bridge, Facial palsy, Congenital diaphragmatic hernia, Prominent nose, Curly eyel...	OMIM:301022
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterolemia	OMIM:607765
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Greenberg Dysplasia	Polyhydramnios, Beaded ribs, Micromelia, Depressed nasal ridge, Hydrops fetalis, Hypoplasia of th...	OMIM:215140
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pectoral muscle hypoplasia/aplasia, Coloboma, Agenesis of corpus callos...	OMIM:136760
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Abnormal ao...	ORPHA:1596
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Lymphedema, Enlarged thorax, Hepatic fibrosis, Atri...	ORPHA:99413
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Lymphedema, Enlarged thorax, Hepatic fibrosis, Atri...	ORPHA:881
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Lymphedema, Enlarged thorax, Hepatic fibrosis, Atri...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Lymphedema, Enlarged thorax, Hepatic fibrosis, Atri...	ORPHA:99226
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Corneal opacity, Precocious puberty, Abnormal toe morphology, Abnormal finger morpholog...	OMIM:163200
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle...	OMIM:166600
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P...	ORPHA:99050
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal r...	ORPHA:1354
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Epicanthus, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Tapered finger, ...	OMIM:301040
Kabuki Syndrome	Congenital diaphragmatic hernia, Highly arched eyebrow, Precocious puberty, Cryptorchidism, Hydro...	ORPHA:2322
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Epicanthus, Dry hair, Short 3rd toe, Tapered finger, Dysplastic corpus callosum, Muscular ventric...	OMIM:618569
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom...	OMIM:259710
Fumarase Deficiency	Bilateral fetal pyelectasis, Anteverted nares, Depressed nasal bridge, Polyhydramnios, Intrahepat...	OMIM:606812
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Cryptorchidism, Short 5th finger, Polydactyly, Small placenta, Ectrodactyly, Clinodac...	ORPHA:397590
Trichohepatoenteric Syndrome 1	Brittle hair, Polyhydramnios, Depressed nasal ridge, Hepatic fibrosis, Sparse hair, Hepatomegaly,...	OMIM:222470
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Lymphedema, Abnormal sternum morphology, Atrial septal defect, ...	OMIM:163950
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Ctcf-Related Neurodevelopmental Disorder	Synophrys, Microcornea, Joint contracture of the 5th finger, Atrial septal defect, Prominent fing...	ORPHA:363611
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Short femur, Short humerus,...	ORPHA:17
Distal Duplication 14Q	Patent ductus arteriosus, Abnormal aortic morphology	ORPHA:1705
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Choanal atresia, Pectus excavatum, Muscular ventricular septal defect, Low posterior h...	OMIM:619227
Chylomicron Retention Disease	Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy	ORPHA:71
Squalene Synthase Deficiency	Optic nerve hypoplasia, Increased circulating farnesol concentration, Elbow flexion contracture, ...	OMIM:618156
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Coloboma, Atrial septal defect, Patent foramen ovale, Synd...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Coloboma, Atrial septal defect, Patent foramen ovale, Synd...	ORPHA:353277
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia	OMIM:615085
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Atrial se...	OMIM:136140
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o...	ORPHA:3097
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Bowing of the legs, Abnormal internal carotid artery m...	ORPHA:97685
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Brachydactyly, Muscular ventricular septal defect, Hydrocele testis, High ante...	OMIM:620062
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho...	ORPHA:254534
Holoprosencephaly	Congenital diaphragmatic hernia, Abnormality of the spleen, Synophrys, Depressed nasal ridge, Pan...	ORPHA:2162
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp...	ORPHA:99094
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Galloway-Mowat Syndrome 3	Epicanthus, Arachnodactyly, Edema, Pectus excavatum, Hip dislocation, Coarctation of aorta, Hyper...	OMIM:617729
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent...	OMIM:619702
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co...	OMIM:614823
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Coloboma, Neoplasm, Atrial septal defect, Broad hallux, Cryptorchidism, Pa...	ORPHA:353281
Esophageal Atresia	Subglottic stenosis, Barrett esophagus, Ventricular septal defect, Choanal atresia, Maternal diab...	ORPHA:1199
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Epicanthus, Anteverted nares, Depressed nasal bridge, Diastasis recti, Polyhydramnios, ...	ORPHA:254528
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Mungan Syndrome	Tricuspid regurgitation, Barrett esophagus, Bilateral ptosis, Perimembranous ventricular septal d...	OMIM:611376
Feingold Syndrome Type 1	Toe syndactyly, Tricuspid stenosis, Short middle phalanx of the 5th finger, Short middle phalanx ...	ORPHA:391641
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Microcornea, Wrist drop, Joint subl...	ORPHA:1900
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Cryptorchidism, Aplasia/Hypoplasia of the...	ORPHA:1926
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Brittle hair, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Pulm...	ORPHA:75389
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Enlarged thorax, Atrioventricular c...	ORPHA:251071
45,X/46,Xy Mixed Gonadal Dysgenesis	Bicuspid aortic valve, Bilateral cryptorchidism, Short metatarsal, Ovarian serous cystadenoma, Hy...	ORPHA:1772
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Adrenal hypoplasia, Polyhydramnios, Flexion contracture, P...	OMIM:275210
Maternal Uniparental Disomy Of Chromosome 4	Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma...	ORPHA:96180
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Abnormal rib morphology...	ORPHA:2345
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Microcornea, Atrial septal defect, Clinodactyl...	OMIM:201000
Alagille Syndrome	Keratoconus, Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of t...	ORPHA:52
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb...	ORPHA:90308
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Asplenia, Abnormal pupil morphology, Flexion contracture, Calcaneovalgus d...	ORPHA:261552
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Microvesicular hepatic steatosis, Partial agenesis of the corpus callosum,...	OMIM:220111
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Wrinkly Skin Syndrome	Delayed eruption of teeth, Scapular winging, Epicanthus, Congenital hip dislocation, Short nail, ...	OMIM:278250
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Premature thelarche, Atrial septal defect, Promine...	OMIM:147920
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Atrial septal defect, Right atrial isomerism, Ventricular septal defe...	OMIM:270100
Kagami-Ogata Syndrome	Polyhydramnios, Flexion contracture, Atrial septal defect, Frontal hirsutism, Hepatomegaly, Antev...	OMIM:608149
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic morph...	ORPHA:1166
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Th...	OMIM:259720
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Recurrent fractures, Vitreous floaters, ...	OMIM:133780
Fanconi Anemia	Abnormal eyelid morphology, Abnormal femur morphology, Leukopenia, Abnormality of the liver, Neop...	ORPHA:84
Floating-Harbor Syndrome	Enlarged joints, Long nose, Humeral pseudarthrosis, Atrial septal defect, Mesocardia, Abnormal an...	ORPHA:2044
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Supraumbilical raphe, Cavernous hemangioma of the face, Coarctation of aorta, Right aortic arch, ...	OMIM:140850
Trisomy 13	Cataract, Ventricular septal defect, Abnormal eyelash morphology, Cryptorchidism, Patent ductus a...	ORPHA:3378
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Increased bone mineral density, Delayed patellar ossification, Abnormal bone ...	ORPHA:163649
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Choanal stenosis, Pancreatic hypoplas...	ORPHA:83617
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Agenesis of corpus callosum, Hyp...	OMIM:618748
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Underdeveloped nasal alae, Abnormal aortic morphology, Blepharophimosi...	ORPHA:2516
Joubert Syndrome 15	Coloboma, Preaxial polydactyly, Exencephaly	OMIM:614464
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia	OMIM:612840
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Increased bone mineral density, Papilledema, Retinal calcification, H...	OMIM:127000
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko...	ORPHA:77297
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Asplenia, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum,...	ORPHA:261537
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
You-Hoover-Fong Syndrome	Pectus excavatum, Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachyda...	OMIM:616954
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocytopenia, Osteoa...	ORPHA:77259
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Short palm, Clinodactyly of the 5th finger, Broad columella, Fin...	ORPHA:1001
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Kagami-Ogata Syndrome	Anteverted nares, Depressed nasal bridge, Diastasis recti, Blepharophimosis, Polyhydramnios, Larg...	ORPHA:254519
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Optic atrophy, Co...	ORPHA:1782
Atelosteogenesis, Type I	Laryngeal stenosis, Polyhydramnios, Short metatarsal, Tibial bowing, Knee dislocation, Narrow che...	OMIM:108720
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Renpenning Syndrome	Decreased testicular size, Skeletal muscle atrophy, Epicanthus, Diabetes mellitus, Cataract, Alop...	ORPHA:3242
Trisomy 1Q	Wide nose, Toe syndactyly, Depressed nasal bridge, Ventricular septal defect, Congenital diaphrag...	ORPHA:261344
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Hepatomegaly, Finger syndactyly, Ventricular septal defect, Optic nerve hypopla...	OMIM:620025
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Spl...	OMIM:600460
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Mowat-Wilson Syndrome	Bicuspid aortic valve, Asplenia, Flexion contracture, Calcaneovalgus deformity, Pectus carinatum,...	ORPHA:2152
Abetalipoproteinemia	Osteopenia, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Reticul...	ORPHA:14
Spondyloepiphyseal Dysplasia Tarda	Retinal detachment, Increased bone mineral density, Osteoarthritis of the distal interphalangeal ...	ORPHA:93284
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Pectus carinatum, T...	ORPHA:175
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Paget Disease Of Bone 3	Fractures of the long bones, Osteolysis, Patchy osteosclerosis	OMIM:167250
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m...	ORPHA:90650
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Edema, Bowing of the legs, Thoracic dysplasia, Narrow chest, Holoprosencephaly, S...	OMIM:269860
Arterial Tortuosity Syndrome	Carotid artery dissection, Congenital diaphragmatic hernia, Flexion contracture, Pectus carinatum...	OMIM:208050
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Ptosis, Corneal opacity, Genu recurvatum, Delayed cranial suture closure, C...	ORPHA:90348
Pallister-Killian Syndrome	Edema of the dorsum of feet, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhyd...	OMIM:601803
Fryns Syndrome	Thickened nuchal skin fold, Aganglionic megacolon, Anteverted nares, Congenital diaphragmatic her...	ORPHA:2059
Autosomal Recessive Robinow Syndrome	Pectus carinatum, Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of the ...	ORPHA:1507
Craniodiaphyseal Dysplasia	Depressed nasal bridge, Abnormal rib morphology, Optic atrophy, Wide nasal bridge, Diaphyseal thi...	ORPHA:1513
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of th...	ORPHA:1666
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Cataract, Ventricular septal defect, Rhiz...	ORPHA:93267
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Choroidal neovascularization, Retinal crystals, Op...	OMIM:259900
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Congenital diaphragmatic hernia, Spina bifida, Situs...	ORPHA:991
Atelosteogenesis Type Ii	Laryngeal stenosis, Polyhydramnios, Micromelia, Narrow chest, Short phalanx of finger, Broad meta...	ORPHA:56304
Giant Axonal Neuropathy	Facial palsy, Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Diffuse...	ORPHA:643
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Autosomal Recessive Multiple Pterygium Syndrome	Skeletal muscle atrophy, Multiple pterygia, Abnormal eyelid morphology, Symphalangism affecting t...	ORPHA:2990
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Arachnodactyly, Pectus excavatum, Pectus carinatum...	OMIM:616166
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aor...	ORPHA:3405
Tetrasomy 9P	Joint dislocation, Myositis, Biliary atresia, Clinodactyly of the 5th finger, Patent foramen oval...	ORPHA:3310
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost...	OMIM:259730
Combined Pituitary Hormone Deficiencies, Genetic Forms	Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth hormone stimulat...	ORPHA:95494
Autoimmune Hypoparathyroidism	Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi...	ORPHA:36913
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Corneal arcus, Joint contrac...	OMIM:602782
Limb Body Wall Complex	Congenital diaphragmatic hernia, Amniotic constriction ring, Abnormality of the liver, Cutaneous ...	ORPHA:2369
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Beaded ribs, Cardiomegaly, Flexion contracture, Hydrops fetalis, Anteverted nares...	OMIM:616897
Diastrophic Dysplasia	Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness	ORPHA:628
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal eyelid morphology, Abnormal aortic arch morphology, Hypoplasia of the th...	ORPHA:567
Giant Cell Arteritis	Pericarditis, Alopecia, Diabetes insipidus, Epistaxis, Sudden cardiac death, Recurrent pharyngiti...	ORPHA:397
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ...	OMIM:614856
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Flexion contracture, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Rod-cone dystrophy...	OMIM:212065
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Brachytelephalangic Chondrodysplasia Punctata	Cataract, Ventricular septal defect, Optic nerve hypoplasia, Broad nasal tip, Epiphyseal stipplin...	ORPHA:79345
Cantú Syndrome	Cardiomegaly, Low anterior hairline, Narrow chest, Broad ribs, Generalized hirsutism, Finger synd...	ORPHA:1517
Mosaic Trisomy 14	Anteverted nares, Prominent nasal bridge, Camptodactyly of finger, Cryptorchidism, Abnormal rib m...	ORPHA:1703
Charge Syndrome	Polyhydramnios, Aqueductal stenosis, Abnormal tibia morphology, Eyelid coloboma, Holoprosencephal...	ORPHA:138
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H...	OMIM:607115
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Sclerocornea, Facial capillary hemangioma, Proxi...	ORPHA:818
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217085
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Anteverted nares, Depressed nasal bridge, Cong...	ORPHA:2311
Achondrogenesis Type 1B	Thickened nuchal skin fold, Anteverted nares, Polyhydramnios, Micromelia, Short thorax, Abnormal ...	ORPHA:93298
Weill-Marchesani Syndrome 2	Short metatarsal, Shallow orbits, Broad ribs, Broad metacarpals, Short metacarpal, Depressed nasa...	OMIM:608328
Marcus-Gunn Syndrome	Unilateral ptosis, Choanal atresia, Abnormal fifth cranial nerve morphology, Abnormal heart morph...	ORPHA:91412
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi...	ORPHA:85188
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi...	ORPHA:217093
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Patent d...	ORPHA:2970
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Hurler Syndrome	Abnormal clavicle morphology, Endocardial fibroelastosis, Abnormal nerve conduction velocity, Gen...	ORPHA:93473
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Camurati-Engelmann Disease	Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long bone diaphyses,...	OMIM:131300
10Q22.3Q23.3 Microduplication Syndrome	Upslanted palpebral fissure, Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morp...	ORPHA:276422
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Epicanthus, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteri...	ORPHA:2519
Shprintzen-Goldberg Craniosynostosis Syndrome	Genu recurvatum, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Shallow orbits, D...	OMIM:182212
Gabriele-De Vries Syndrome	Hallux valgus, Telecanthus, Facial hypotonia, Aortopulmonary collateral arteries, Sandal gap, Bro...	OMIM:617557
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Right Atrial Isomerism	Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera...	OMIM:208530
Acrofacial Dysostosis 1, Nager Type	Subglottic stenosis, Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphrag...	OMIM:154400
Craniofacial Microsomia 1	Occipital encephalocele, Ventricular septal defect, Hypoplasia of facial musculature, Block verte...	OMIM:164210
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Papilledema, Hepatomegaly, Peri...	ORPHA:580
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Polyhydramnios, Hydrops fetalis, Narrow chest, Atrial septal defe...	OMIM:613610
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morphology, Single ...	ORPHA:2772
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension	ORPHA:3222
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hypocholesterolemia	OMIM:618810
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Subchorionic septal cyst, Leiomyos...	ORPHA:116
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Subglottic stenosis, Toe syndactyly, Thoracic aortic aneurysm, Ventricular septal defect, Dextroc...	OMIM:619657
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Laryngeal stenosis, Short metacarpal, Enlarged interphalangeal joints, Genu recurv...	OMIM:151200
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, A...	ORPHA:2255
Pseudohypoparathyroidism Type 1B	Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo...	ORPHA:94089
White Forelock With Malformations	Finger syndactyly, Epicanthus, Abnormal rib morphology, White forelock, Clinodactyly of the 5th f...	ORPHA:2475
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Pu...	ORPHA:3342
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Congenital diaphragmatic hernia, Polyhydramnios,...	ORPHA:373
Nestor-Guillermo Progeria Syndrome	Limited elbow movement, Flexion contracture, Rib osteolysis, Atherosclerosis, Alopecia, Sparse ey...	OMIM:614008
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Trisomy 18	Epicanthus, Cataract, Ventricular septal defect, Choanal atresia, Congenital diaphragmatic hernia...	ORPHA:3380
1P36 Deletion Syndrome	Abnormality of the spleen, Depressed nasal ridge, Abnormality of the liver, Clinodactyly of the 5...	ORPHA:1606
Loeys-Dietz Syndrome 4	Torticollis, Flat cornea, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Arterial to...	OMIM:614816
Tricho-Dento-Osseous Syndrome	Increased bone mineral density, Periapical tooth abscess	ORPHA:3352
Basal Cell Nevus Syndrome 1	Rhabdomyoma, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma, Vertebral fusion, Odont...	OMIM:109400
Cooper-Jabs Syndrome	Ventricular septal defect, Anteverted nares, Congenital diaphragmatic hernia, Missing ribs, Campt...	ORPHA:1488
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Patent ductus arteriosus, Upslanted palpebral fissure, Abnormal aortic morphology, Hypoplastic le...	ORPHA:2001
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Stuve-Wiedemann Syndrome 1	Enlarged joints, Knee flexion contracture, Femoral bowing, Tibial bowing, Sparse hair, Short tibi...	OMIM:601559
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Corneal opacity, Pointed proximal second through fifth metacarpals, Ulnar deviation...	OMIM:253010
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Carey-Fineman-Ziter Syndrome	Laryngeal stenosis, Skeletal muscle atrophy, Epicanthus, Anteverted nares, Facial palsy, Brachyda...	ORPHA:1358
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Increased skull ossification, Craniofacial osteosclerosis, Optic atrophy, Diaphyseal sclerosis, O...	OMIM:618476
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Ele...	ORPHA:355
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P...	OMIM:213980
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Depressed nasa...	ORPHA:2211
Omodysplasia 1	Limited elbow flexion, Atrial septal defect, Short tibia, Depressed nasal bridge, Rhizomelia, Inc...	OMIM:258315
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Optic atrophy, Increased susceptibility t...	OMIM:224300
Proteus-Like Syndrome	Communicating hydrocephalus, Thymus hyperplasia, Cataract, Anteverted nares, Genu recurvatum, Ven...	ORPHA:2969
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major...	ORPHA:2911
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Broad ribs, Caesarian section, Hepat...	OMIM:253200
Igg4-Related Ophthalmic Disease	Cholangitis, Abnormal morphology of bony orbit of skull, Abnormality of infra-orbital nerve, Abno...	ORPHA:449563
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Subglottic stenosis, Decreased response to growth hormone stimulation test, Synophrys, Hypothyroi...	ORPHA:444077
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Microphthalmia, Syndromic 3	Optic nerve aplasia, Vertebral fusion, Cataract, Ventricular septal defect, Optic nerve hypoplasi...	OMIM:206900
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Bowing of the long bones, Abnormal pulmonary valve morph...	ORPHA:667
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Down Syndrome	Prenatal double bubble sign, Short palm, Atrial septal defect, Atrioventricular canal defect, Hyp...	OMIM:190685
Atelosteogenesis Type I	Joint dislocation, Laryngeal stenosis, Telecanthus, Short femur, Rhizomelia, Polyhydramnios, Abno...	ORPHA:1190
Metatropic Dysplasia	Cataract, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Hydrocephalus, Abnormal ri...	ORPHA:2635
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Laterally curved eyebrow, Atrial ...	OMIM:300166
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Fraser Syndrome 1	Subglottic stenosis, Laryngeal stenosis, Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Malform...	OMIM:219000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Congenital Heart Defects, Multiple Types, 9	Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out...	OMIM:620294
Fibrochondrogenesis 1	Hydrops fetalis, Short palm, Clinodactyly of the 5th finger, Megalocornea, Patent foramen ovale, ...	OMIM:228520
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Hyperparathyroidism, Polyhydramnios, Femoral bowing, Narrow chest, A...	OMIM:618188
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm...	ORPHA:3240
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Narrow nasal ridge, Underdeveloped nasal alae, Long fingers, Upslanted palpebral fissure, Varicos...	OMIM:618343
Monosomy 9Q22.3	Delayed eruption of teeth, Epicanthus, Ovarian fibroma, Cataract, Odontogenic keratocysts of the ...	ORPHA:77301
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair, Reduced circulating growth hormone concentration, Multiple muscular ventricular sept...	OMIM:615508
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Polyhydramnios, Edema, Secundum atrial septal defect, Aqueductal s...	OMIM:619534
Fibromuscular Dysplasia, Arterial	Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic...	OMIM:135580
Osteopathia Striata With Cranial Sclerosis	Polyhydramnios, Partial agenesis of the corpus callosum, Osteopathia striata, Atrial septal defec...	OMIM:300373
Vacterl/Vater Association	Occipital encephalocele, Finger syndactyly, Premature birth, Congenital diaphragmatic hernia, Pol...	ORPHA:887
Poems Syndrome	Sclerosis of hand bone, Papilledema, Sclerosis of foot bone, Sclerosis of skull base, Thrombocyto...	ORPHA:2905
Vater/Vacterl Association	Laryngeal stenosis, Abnormal nasopharynx morphology, Occipital encephalocele, Ventricular septal ...	OMIM:192350
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Congenital diaphragmati...	ORPHA:1647
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Hydrops fetali...	OMIM:265000
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Synophrys, Depressed nasal ridge, Atrial septal defect, Clinodactyly of th...	OMIM:607872
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Frontometaphyseal Dysplasia	Subglottic stenosis, Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida...	ORPHA:1826
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Polyhydramnios, Micromelia, Low anterior hairline, Coxa vara, Pectus car...	ORPHA:800
Feingold Syndrome 1	Polyhydramnios, Asplenia, Accessory spleen, Anteverted nares, Short thumb, Patent ductus arterios...	OMIM:164280
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Frontometaphyseal Dysplasia 2	Subglottic stenosis, Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, El...	OMIM:617137
Pycnodysostosis	Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...	ORPHA:763
Werner Syndrome	Abnormality of retinal pigmentation, Increased bone mineral density, Osteoporosis, Joint stiffness	ORPHA:902
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Synophrys, Flexion contracture, Atrioven...	ORPHA:581
Pituicytoma	Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ...	ORPHA:251623
Marfan Syndrome	Skeletal muscle atrophy, Limited elbow movement, Pectus carinatum, Hypoplasia of the iris, Arachn...	ORPHA:558
Cenani-Lenz Syndrome	Micromelia, Foot oligodactyly, Hypothyroidism, Synostosis of carpal bones, Hypoplasia of the ulna...	ORPHA:3258
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocard...	OMIM:613686
Lmna-Related Cardiocutaneous Progeria Syndrome	Intracranial hemorrhage, Abnormal intrahepatic bile duct morphology, Papillary renal cell carcino...	ORPHA:363618
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Prominent nasal bridge, Facial palsy, Abn...	ORPHA:3068
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Trichothiodystrophy	Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa...	ORPHA:33364
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Narrow nasal bridge, Broad hallux phalanx, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ...	ORPHA:3082
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Sclerocornea, Atrial septal defect, Megalocornea, Agenesis of co...	ORPHA:280
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Amniotic constriction r...	ORPHA:2215
Hallermann-Streiff Syndrome	Metaphyseal widening, Chorioretinal coloboma, Sparse hair, Iris coloboma, Spina bifida, Sparse ey...	OMIM:234100
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Optic ne...	OMIM:612301
Homozygous Familial Hypercholesterolemia	Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Missing ribs, Short thorax, Abnormal rib morphology, Wide nasal bridge, Upslant...	ORPHA:1797
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Septo-optic dysplasia, Cataract, Polyhydramnios, Missing r...	ORPHA:3301
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Adrenal calcification, Polyhydramnios, Cardiomegaly, Feta...	ORPHA:51608
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Han...	OMIM:609945
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Aicardi Syndrome	Proximal placement of thumb, Partial agenesis of the corpus callosum, Hepatoblastoma, Dilated thi...	OMIM:304050
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar...	OMIM:175050
Osteogenesis Imperfecta	Micromelia, Abnormal tibia morphology, Flexion contracture, Osteoarthritis, Abnormal femur morpho...	ORPHA:666
Mowat-Wilson Syndrome	Pectus carinatum, Microcornea, Chorioretinal coloboma, Atrial septal defect, Agenesis of corpus c...	OMIM:235730
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,...	ORPHA:90363
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Aspergillosis	Eosinophilia, Hematological neoplasm, Keratitis, Dacryocystitis, Abnormal rib morphology, Hepatit...	ORPHA:1163
Milroy Disease	Epicanthus, Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Hydroce...	ORPHA:79452
Zttk Syndrome	Flexion contracture, Atrial septal defect, Absent gallbladder, Depressed nasal bridge, Sparse eye...	OMIM:617140
Meester-Loeys Syndrome	Joint dislocation, Brachydactyly, Arachnodactyly, Mitral valve prolapse, Ascending tubular aorta ...	OMIM:300989
Cat-Eye Syndrome	Downslanted palpebral fissures, Abnormal rib morphology, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Femoral-Facial Syndrome	Short femur, Maternal diabetes, Cryptorchidism, Rib fusion, Abnormal rib morphology, Coxa vara, S...	ORPHA:1988
Weill-Marchesani Syndrome 1	Cataract, Depressed nasal bridge, Ventricular septal defect, Ectopia lentis, Patent ductus arteri...	OMIM:277600
Fryns Syndrome	Ectopic pancreatic tissue, Polyhydramnios, Proximal placement of thumb, Atrial septal defect, Bro...	OMIM:229850
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Wormian bones, Bowing of the long bones, T...	ORPHA:565
Dubowitz Syndrome	Acute lymphoblastic leukemia, Rod-cone dystrophy, Aplastic anemia, Hypocholesterolemia	OMIM:223370
X-Linked Hypophosphatemia	Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Tooth absces...	ORPHA:89936
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Wide nose, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypop...	ORPHA:2319
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Hallux valgus, Laryngeal stenosis, Thumb contracture, Short nail, Tapered finger, Duplication of ...	ORPHA:324540
Primary Hyperoxaluria	Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Recurrent fractures, Generalized ...	ORPHA:416
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Mesocard...	OMIM:618280
Desmosterolosis	Splenomegaly, Increased bone mineral density, Osteopetrosis	ORPHA:35107
Desmosterolosis	Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip...	OMIM:602398
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Premature birth, Congenital diaphragmatic hernia, Missing ribs, Abnormal...	ORPHA:1834
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abdominal aortic aneurysm, Arachnodactyly,...	ORPHA:284984
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Osteopetrosis	OMIM:618541
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Flexion contrac...	OMIM:154700
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Epicanthus, Premature birth, Choanal atresia, Polyhydramnios, Missing ribs, Arachnodactyly, Abnor...	ORPHA:2759
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Pectus carin...	OMIM:610168
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ...	ORPHA:77261
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Dysostosis, Stanescu Type	Massively thickened long bone cortices, Increased bone mineral density	ORPHA:1798
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater...	OMIM:617205
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Hepatic fibrosis, Narrow chest, Thoraci...	OMIM:263520
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Laryngeal stenosis, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiphys...	ORPHA:93360
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Grant Syndrome	Joint dislocation, Bowing of the long bones, Depressed nasal bridge, Abnormal rib morphology, Nar...	ORPHA:2097
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Brachydactyly, Micromelia, Craniosynostosis, Split hand, Abnormal rib morpholo...	ORPHA:2145
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Atrial septal defect, Agenesis of corpus callosum, Iris coloboma, Accessor...	OMIM:194190
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Abnormal rib morphology, Neutropenia, Downslanted palpebral fissures, Brachydactyly	ORPHA:2643
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Pectus carinatum, Right ventricu...	OMIM:619472
Erdheim-Chester Disease	Increased bone mineral density, Osteomyelitis, Osteolysis, Xanthelasma, Anemia	ORPHA:35687
Pseudohypoparathyroidism Type 1A	Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ...	ORPHA:79443
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Op...	ORPHA:1435
Pseudohypoparathyroidism Type 1C	Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,...	ORPHA:79444
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,...	ORPHA:93941
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Retinal atrophy, Recurrent fractures, Elevated circulating creatine kinase concentr...	ORPHA:2785
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia	OMIM:241410
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Knee flexion contracture, Coloboma, Eyelid coloboma, Shallow orbits, Atrial septa...	OMIM:268300
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Depressed nasal bridge, Hamartoma of tongue, Postaxial polydacty...	OMIM:617925
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Tibial bowing, Choanal stenosis, Shallow orbits, Hepatoblastoma, Br...	ORPHA:798
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Prominent nose, Bulbous nose, Hydrocephalus...	ORPHA:2180
Juvenile Polyposis Syndrome	Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformation, Edema, Hamartomatous po...	ORPHA:2929
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Microphthalmia With Limb Anomalies	Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinoda...	ORPHA:1106
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Choanal stenosis, Midface capillary hemangioma, Spin...	OMIM:218600
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Gener...	OMIM:264090
Neurooculorenal Syndrome	Subglottic stenosis, Iris atrophy, Decreased circulating cortisol level, Ectopic posterior pituit...	OMIM:620305
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology,...	ORPHA:93351
Melnick-Needles Syndrome	Delayed eruption of teeth, Bowing of the long bones, Coxa valga, Short thorax, Abnormal rib morph...	ORPHA:2484
12Q14 Microdeletion Syndrome	Abnormality of the spleen, Osteopoikilosis	ORPHA:94063
Panhypophysitis	Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc...	ORPHA:95513
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Epicanthus, Tricuspid regurgitation, Decreased fetal movement, Polyhydra...	OMIM:614557
Duplication Of The Pituitary Gland	Encephalocele, Thoracic scoliosis, Polyhydramnios, Abnormality of masseter muscle, Abnormal pitui...	ORPHA:314621
Raine Syndrome	Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,...	OMIM:259775
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Abnormal pupil morphology, Osteoarthritis, Interna...	ORPHA:286
Campomelia, Cumming Type	Hepatomegaly, Brachydactyly, Bowing of the long bones, Myelodysplasia, Lymphedema, Pancreatic cys...	ORPHA:1318
Thoracic Outlet Syndrome	Varicose veins, Abnormal rib morphology, Edema	ORPHA:97330
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of...	OMIM:614195
Sponastrime Dysplasia	Subglottic stenosis, Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Coxa v...	ORPHA:93357
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl...	ORPHA:2658
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Cleidocranial Dysplasia	Delayed eruption of teeth, Hypoplastic scapulae, Depressed nasal bridge, Down-sloping shoulders, ...	ORPHA:1452
Atypical Werner Syndrome	Sclerosis of hand bone, Abnormality of retinal pigmentation, Increased bone mineral density, Hype...	ORPHA:79474
Thoracolaryngopelvic Dysplasia	Laryngeal stenosis, Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, ...	OMIM:187760
Adenohypophysitis	Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc...	ORPHA:95512
Mandibuloacral Dysplasia Progeroid Syndrome	Flexion contracture, Macrovesicular hepatic steatosis, Shallow orbits, Sparse hair, Patent forame...	OMIM:619127
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Alport Syndrome	Diffuse leiomyomatosis, Posterior subcapsular cataract, Renal glomerular foam cells, Abnormal cor...	ORPHA:63
Spondyloepimetaphyseal Dysplasia, Shohat Type	Laryngeal stenosis, Bowing of the legs, Metaphyseal widening, Premature osteoarthritis, Flared me...	ORPHA:93352
Neurotrophic Keratopathy	Diabetes mellitus, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal ede...	ORPHA:137596
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Prader-Willi Syndrome	Decreased response to growth hormone stimulation test, Edema, Xerostomia, Premature adrenarche, P...	ORPHA:739
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Camptodactyly of finger, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Cerebrocostomandibular Syndrome	Rib gap, 10 pairs of ribs, 11 pairs of ribs, Epicanthus, Anomalous rib insertion to vertebrae, Ve...	OMIM:117650
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal heart valve morphology, Anteverted nares, C...	ORPHA:582
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Pectus excavatum, Abnormal rib morphology, Fused cervical vertebrae...	ORPHA:2522
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis	ORPHA:2323
Femoral-Facial Syndrome	Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Cryptorchidism, Humeroradial ...	OMIM:134780
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Depressed nasal bridge, Camptodactyly of finger, Micromel...	ORPHA:2021
Sheehan Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc...	ORPHA:91355
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Retroperitoneal fibrosis, Dacryocystitis, Abnormal mesentery morpholo...	ORPHA:449395
Craniopharyngioma	Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphol...	ORPHA:54595
Ulnar-Mammary Syndrome	Subglottic stenosis, Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia,...	OMIM:181450
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Joint dislocation, Epicanthus, Wormian bones, Abnormality of the wrist, Decreased ne...	ORPHA:285
Prolactinoma	Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ...	ORPHA:2965
Geleophysic Dysplasia 3	Subglottic stenosis, Hepatomegaly, Depressed nasal bridge, Anteverted nares, Polyhydramnios, Prem...	OMIM:617809
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Camptodactyly of finger, Arachnodactyly, Craniosynostosis, Abn...	ORPHA:83
Lethal Congenital Contracture Syndrome Type 1	Skeletal muscle atrophy, Polyhydramnios, Abnormality of the elbow, Abnormal rib morphology, Amnio...	ORPHA:1486
Camptodactyly Syndrome, Guadalajara Type 3	Telecanthus, Symblepharon, Sternocleidomastoid amyotrophy, Broad nasal tip, Broad femoral neck, A...	ORPHA:488434
Burning Mouth Syndrome	Xerostomia, Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine...	ORPHA:438213
Townes-Brocks Syndrome	Chorioretinal coloboma, Triphalangeal thumb, Limbal dermoid, Clinodactyly of the 5th finger, Atri...	ORPHA:857
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Subglottic stenosis, Bicuspid aortic valve, Tapered finger, Bulbous nose, Macroglossia, Talipes e...	OMIM:614501
Congenital Pulmonary Valvar Stenosis	Atrial septal defect, Laryngeal stenosis	ORPHA:3189
Myhre Syndrome	Brachydactyly, Cataract, Precocious puberty, Cryptorchidism, Abnormal rib morphology, Skeletal mu...	ORPHA:2588
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Subglottic stenosis, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Neutropenia, Genu varum,...	OMIM:271510
Mosaic Trisomy 8	Wide nose, Anteverted nares, Camptodactyly of finger, Corneal opacity, Broad nasal tip, Cryptorch...	ORPHA:96061
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Fraser Syndrome	Subglottic stenosis, Laryngeal stenosis, Encephalocele, Cleft ala nasi, Depressed nasal bridge, F...	ORPHA:2052
Monosomy 9P	Epicanthus, Anteverted nares, Choanal atresia, Depressed nasal bridge, Congenital diaphragmatic h...	ORPHA:261112
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt...	ORPHA:300373
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Aqueductal stenosis, Splenomegaly, Abnormal rib morpholo...	ORPHA:3035
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Th...	ORPHA:249
Hypophosphatasia	Bowing of the long bones, Craniosynostosis, Abnormal rib morphology, Narrow chest, Abnormal metap...	ORPHA:436
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the thyroid gland, Abnormal rib morphology, Hypogonadism, Type II diabetes mellitu...	ORPHA:2234
Sclerosteosis 1	Papilledema, Sclerotic scapulae, Optic atrophy, Facial palsy secondary to cranial hyperostosis, C...	OMIM:269500
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra...	OMIM:131100
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal pupil morphology, Dehydration, Lentiglobus, Cryptorchidism, Abnorma...	ORPHA:534
Microcephaly 13, Primary, Autosomal Recessive	Subglottic stenosis, Prominent nose, Metaphyseal sclerosis, Partial agenesis of the corpus callos...	OMIM:616051
Loeys-Dietz Syndrome	Joint dislocation, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, ...	ORPHA:60030
Kindler Epidermolysis Bullosa	Laryngeal stenosis, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Flexion contract...	ORPHA:2908
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Brachydactyly, Depressed nasal bridge, Bowed humerus, Flexion cont...	OMIM:619479
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Prominent nose, Long nose, Missing ribs, Bulbous nose, Elbow dislocation, Abno...	ORPHA:2769
Cleidocranial Dysplasia 1	Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac...	OMIM:119600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Broa...	OMIM:276820
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Small h...	ORPHA:2232
Holzgreve Syndrome	Abnormal morphology of ulna, Abnormal mesentery morphology, Abnormal rib morphology, Single umbil...	ORPHA:2167
Leukodystrophy, Hypomyelinating, 24	Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract, Flexion contra...	OMIM:619851
Severe Generalized Junctional Epidermolysis Bullosa	Laryngeal stenosis, Alopecia, Edema, Abnormal fingertip morphology, Dilated cardiomyopathy, Dehyd...	ORPHA:79404
Shwachman-Diamond Syndrome 2	Subglottic stenosis, Hepatomegaly, Normocytic anemia, Anterior rib cupping, Metaphyseal widening,...	OMIM:617941
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Autoi...	ORPHA:227982
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Alopecia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Primary...	ORPHA:227990
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Abnormal rib morphology, Low posterior hairline, Cervical C2/C3 ...	OMIM:118100
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal rib morphology, ...	ORPHA:2907
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Severe B lymp...	ORPHA:293978
Cole-Carpenter Syndrome	Delayed eruption of teeth, Communicating hydrocephalus, Bowing of the long bones, Abnormal rib mo...	ORPHA:2050
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Choanal atresia, Cryptorchidism, Split hand, Abnormal rib morp...	ORPHA:1300
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology, Low posterior hairline	ORPHA:2578
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Myocarditis, Metaphyseal chondrodysplasia, Abnorma...	ORPHA:93317
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Telangiectasia of the skin, Macrodactyly, Abnormal cerebral vascular ...	ORPHA:276280
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Hypoplasia of the radius, Abnormal rib morphology, Abnormalit...	ORPHA:3015
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormal rib morphology	OMIM:601076
Schinzel-Giedion Midface Retraction Syndrome	Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones, Splenop...	OMIM:269150
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Depressed nasal bridge, Maternal diabetes, Cryptorchidism, Humer...	ORPHA:3404
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Cryptorchidism, ...	ORPHA:2554
Idiopathic Pulmonary Fibrosis	Clubbing of fingers, Pulmonary insufficiency	ORPHA:2032
Auditory Neuropathy, Autosomal Dominant 2		OMIM:620384
Deafness, Autosomal Dominant 84		OMIM:619810

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 Atp11a

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 Atp11a.

There are 10 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Defects in placental syncytiotrophoblast cells are a common cause of developmental heart disease.	Nature communications (March 2023)	Atp11a^{tm1c(KOMP)Wtsi} Atp11a^{tm1a(KOMP)Wtsi} Atp11a^{tm1d(KOMP)Wtsi} Atp11a^{tm1b(KOMP)Wtsi}	PMC9978031
A mutation in ATP11A causes autosomal-dominant auditory neuropathy type 2.	Human molecular genetics (March 2023)	Atp11a^{tm1c(KOMP)Wtsi} Atp11a^{tm1a(KOMP)Wtsi}	36300302
Inefficient development of syncytiotrophoblasts in the Atp11a-deficient mouse placenta.	Proceedings of the National Academy of Sciences of the United States of America (April 2022)	Atp11a^{tm1c(KOMP)Wtsi} Atp11a^{tm1a(KOMP)Wtsi}	PMC9170144
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Atp11a^{tm1a(KOMP)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Atp11a^{tm1a(KOMP)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Atp11a^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Atp11a^{tm1a(KOMP)Wtsi}	PMC6459510
Cell surface flip-flop of phosphatidylserine is critical for PIEZO1-mediated myotube formation.	Nature communications (May 2018)	Atp11a^{tm1a(KOMP)Wtsi}	PMC5967302
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Atp11a^{tm1a(KOMP)Wtsi}	PMC5827107
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Atp11a^{tm1a(KOMP)Wtsi}	PMC5159622

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MGI Allele	Allele Type	Produced
Atp11a^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	Mice
Atp11a^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Atp11a MGI:1354735

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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DSS Histology

X-ray

Eye Morphology

Anti-nuclear antibody assay

X-ray

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Atp11a mutations

Histopathology

IMPC related publications

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