Gene Summary

ATPase, class VI, type 11A
LOC100045280,  4930558F19Rik,  9130422H11Rik,  Ih

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating HDL cholesterol level Atp11atm1e(KOMP)Wtsi HET Early adult 1.81×10-05
increased bone mineral density Atp11atm1e(KOMP)Wtsi HET Early adult 3.08×10-05
preweaning lethality, complete penetrance Atp11atm1e(KOMP)Wtsi HOM   Early adult 0.00
increased leukocyte cell number Atp11atm1e(KOMP)Wtsi HET Early adult 2.22×10-07
abnormal retina morphology Atp11atm1e(KOMP)Wtsi HET Early adult 9.25×10-06
decreased circulating cholesterol level Atp11atm1e(KOMP)Wtsi HET Early adult 1.21×10-05

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.


XRay Images Forepaw

15 Images


XRay Images Whole Body Dorso Ventral

14 Images


XRay Images Skull Dorso Ventral Orientation

14 Images

DSS Histology


8 Images


XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Anti-nuclear antibody assay


6 Images


XRay Images Whole Body Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

2 Images

Ear epidermis immunophenotyping


12 Images

Legacy Phenotype Associated Images

View all 106 images

View all 8 images

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.

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

Disease Similarity of
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
Auditory Neuropathy, Autosomal Dominant 2

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

Disease Similarity of
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
Increased bone mineral density OMIM:166450
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
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
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
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
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
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
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
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
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
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
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
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit...