| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Depressed nasal bridge, Broad nasal tip, Atrial flutter, Lymphedema, Telecanthus, Oligohydramnios... |
OMIM:601927 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Distal amyotrophy, Sandal gap, Downslanted palpebral fissures, Abnormal heart morphology, Decreas... |
ORPHA:477817 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Wide nasal bridge, Clubbing of toes, Downslanted palpebral fissures, Tetralogy of Fallot, Cryptor... |
ORPHA:3304 |
| 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, Choanal atresia, Depressed nasal bridge, Short palpebral fissure, Chorio... |
ORPHA:284169 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, B... |
ORPHA:371428 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Phaver Syndrome |
|
Depressed nasal bridge, Ulnar deviation of finger, Broad thumb, Short thumb, Camptodactyly of fin... |
ORPHA:2876 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... |
ORPHA:860 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Lethal Congenital Contracture Syndrome 10 |
|
Increased variability in muscle fiber diameter, Narrow chest, Downslanted palpebral fissures, Bro... |
OMIM:617022 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Cirrhosis, A... |
ORPHA:101028 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Overlapping toe, Ventricular septal defect, Agenesis of corpus callosum, Bicuspid ao... |
ORPHA:508498 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Papillede... |
OMIM:620366 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Retinal degeneratio... |
OMIM:615558 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Optic atrophy from cranial nerve compression, Increased bone mine... |
OMIM:239100 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Fetal pericardial effusion, Increased mean corpuscular volume, Second degree atrioventricular blo... |
OMIM:617021 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Abnormal heart morphology, Bulbous nose, Overlapping toe, Overlapping f... |
OMIM:618494 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Pe... |
ORPHA:363705 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Coarctation ... |
OMIM:620210 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... |
ORPHA:261243 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone density with cystic changes, Rod-cone dystrophy, Osteoporosis, In... |
OMIM:136300 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Wide nasal bridge, Sparse eyebrow, Multiple muscular ventricular septal defects, Polyhydramnios, ... |
OMIM:620070 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Mosaic Trisomy 1 |
|
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Congenital bilateral... |
ORPHA:1692 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Highly arched eyebrow, Sparse eyebrow, Broad thumb, Secundum atrial septal defe... |
OMIM:600987 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Transaldolase Deficiency |
|
Depressed nasal bridge, Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepat... |
OMIM:606003 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Atrioventricular canal de... |
ORPHA:1120 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Cholestasis, Decreased circulating T4 concentration, Ascites, Oligohydr... |
OMIM:608104 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Sandal gap, Downslanted palpebral fissures, Short 5th metacarpal, 11 pairs of ribs, An... |
OMIM:617877 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Optic atrophy, Increased bone mineral density |
ORPHA:178377 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Coarctation of aorta, Central diabetes insipidus, Ethmoidal encephalocele, Ab... |
ORPHA:280195 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Depressed nasal bridge, Peters anomaly, Supernumerary nipple, Atrioventricular canal defect, Down... |
OMIM:618929 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Clinodactyly of the 2nd finger, Frontal upsweep of hair, Cryptorchidism, Mitra... |
ORPHA:93932 |
| Lowry-Maclean Syndrome |
|
Generalized hypertrichosis, Choanal atresia, Abnormality of the abdominal organs, Bilateral crypt... |
ORPHA:2409 |
| Rubinstein-Taybi Syndrome 1 |
|
Facial hypertrichosis, Broad thumb, Delayed cranial suture closure, Frontal upsweep of hair, Cryp... |
OMIM:180849 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Splenomegaly, Reticulocytosis, Optic disc pallor, Osteopetrosis, Thrombocytopenia,... |
OMIM:611490 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Long eyelashes, Cryptorchidism, Epicanthus, Coarctation of aorta, Atrial septal defect, Patent du... |
OMIM:615502 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... |
OMIM:274000 |
| Noonan Syndrome 2 |
|
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low posterior hairline, Bicuspi... |
OMIM:605275 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Sclerosteosis |
|
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone miner... |
ORPHA:3152 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Sandestig-Stefanova Syndrome |
|
Wide nasal bridge, Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Muscular ventricul... |
OMIM:618804 |
| Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... |
OMIM:619178 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Cryptorchidism, Mitral regurgitation, Ventricular septal defect, Low poster... |
OMIM:617506 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Catel-Manzke Syndrome |
|
Narrow naris, Ulnar deviation of the 2nd finger, Genu valgum, Cryptorchidism, Ventricular septal ... |
OMIM:616145 |
| Fixed Subaortic Stenosis |
|
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... |
ORPHA:3092 |
| Phace Association |
|
Optic atrophy, Cavernous hemangioma of the face, Congenital hypothyroidism, Arterial stenosis, Ve... |
OMIM:606519 |
| Sotos Syndrome |
|
Depressed nasal bridge, Long metacarpals, Broad nasal tip, Sparse eyebrow, High anterior hairline... |
OMIM:117550 |
| Noonan Syndrome 10 |
|
Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Mitral regurgitation, Epicanthu... |
OMIM:616564 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Bic... |
OMIM:618164 |
| Apert Syndrome |
|
Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Delayed ... |
OMIM:101200 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Asymmetry of the thorax, Wide nasal bridge, Cataract, Coarse metaphyseal t... |
ORPHA:2780 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Fetal distress, Bell-shaped thorax, Cryptorchidism, Horizontal ribs, Coarctation of aorta, Pulmon... |
OMIM:614857 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Ventricula... |
ORPHA:2308 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect,... |
OMIM:618454 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... |
ORPHA:210110 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short palpebral fissure, Tetralogy of Fallot, Upslanted palpebral fissure, Cryptorchidism, Astigm... |
OMIM:617159 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... |
OMIM:115197 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis |
OMIM:619398 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Downslanted palpebral fissures, Prominent corneal nerve fibers, Cryptorchidism, V... |
OMIM:616559 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Depressed nasal bridge, Rhizomelia, Short palpebral fissure, Clinodactyly, ... |
OMIM:614114 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Downslanted palpebral fissures, Prom... |
ORPHA:1110 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelofibrosis, Refractory anemia, I... |
OMIM:231095 |
| Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, 11 pairs of ribs, Complete atrioventricular canal defect, Cryptorchid... |
OMIM:264480 |
| Restrictive Dermopathy |
|
Thin ribs, Natal tooth, Increased anterioposterior diameter of thorax, Large placenta, Atrial sep... |
ORPHA:1662 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Depressed nasal bridge, Aplasia/Hypoplasia of the thymus, Tetralogy of Fa... |
ORPHA:3426 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Phace Syndrome |
|
Aortic root aneurysm, Agenesis of corpus callosum, Abnormality of the orbital region, Lens colobo... |
ORPHA:42775 |
| Kaufman Oculocerebrofacial Syndrome |
|
Depressed nasal bridge, Congenital hip dislocation, Microcornea, Sparse eyebrow, Anteverted nares... |
OMIM:244450 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Epicanthus, Atrial septal defect, Narrow palpebral fissure, Patent duc... |
OMIM:158170 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Long eyelashes, Coarctation of aorta, Polyhydramnios, Hypertension, Dehydration |
OMIM:616069 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
High anterior hairline, Abnormal heart morphology, Muscular ventricular septal defect, Overlappin... |
ORPHA:363444 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Elbow dislocation, Lateral ventricle dilatation, Cryptorchidism, Hip contrac... |
OMIM:210710 |
| Ogden Syndrome |
|
Flared nostrils, Palpebral thickening, Delayed cranial suture closure, Torsade de pointes, Crypto... |
OMIM:300855 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Epicanthus, Short hallux,... |
ORPHA:508488 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... |
OMIM:312700 |
| Congenital Gerbode Defect |
|
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... |
ORPHA:99095 |
| Hoxha-Aliu Syndrome |
|
Overlapping toe, Absent fifth metatarsal, Epicanthus, Atrial septal defect, Patellar dislocation,... |
OMIM:620662 |
| Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Hypocholesterolemia, Rod-cone dystrophy, Steato... |
OMIM:266510 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... |
ORPHA:1686 |
| Snijders Blok-Campeau Syndrome |
|
Wide nasal bridge, Umbilical hernia, Prominent nose, Astigmatism, Epicanthus, Perimembranous vent... |
OMIM:618205 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Hip contracture, V... |
OMIM:619503 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Sandal gap, Narrow nose, Clinodactyly of the 5th finger, Cryptorchidism, Co... |
OMIM:617602 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Craniofacial hyperostosis, Craniofacial osteosclerosis, Cortical sclerosis, Papill... |
OMIM:122860 |
| Alg12-Cdg |
|
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Overlapping fingers, Cr... |
ORPHA:79324 |
| Alg3-Cdg |
|
Cataract, Abnormality of the nose, Cardiomyopathy, Decreased liver function, Metaphyseal chondrod... |
ORPHA:79321 |
| Charge Syndrome |
|
Lymphopenia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Radial head subluxation... |
OMIM:214800 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve... |
OMIM:306955 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Dysplastic corpus cal... |
OMIM:620135 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma |
OMIM:107550 |
| Kabuki Syndrome 2 |
|
Short 5th finger, Eversion of lateral third of lower eyelids, Highly arched eyebrow, Broad nasal ... |
OMIM:300867 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... |
ORPHA:1330 |
| Mosaic Trisomy 16 |
|
Craniofacial asymmetry, Short forearm, Abnormality of the nose, Clinodactyly, Short thumb, Abnorm... |
ORPHA:1708 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, V... |
OMIM:256520 |
| Acrocardiofacial Syndrome |
|
Wide nasal bridge, Toe syndactyly, Joint dislocation, Finger syndactyly, Camptodactyly of finger,... |
ORPHA:2008 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Houge-Janssens Syndrome 3 |
|
Broad nasal tip, Megalocornea, Muscular ventricular septal defect, Umbilical hernia, Epicanthus, ... |
OMIM:618354 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death |
OMIM:601612 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Stomach cancer, Epicanthus, Atrial septal defect, Acute lymphoblastic leukemia, Holoprosencephaly... |
ORPHA:1052 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Ductus venosus agenesis, Situs inversus totalis, Right aor... |
OMIM:620642 |
| Methimazole Embryofetopathy |
|
Choanal atresia, Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal... |
ORPHA:1923 |
| Scimitar Syndrome |
|
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... |
ORPHA:185 |
| Noonan Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Low posterior hairline, Radioulnar synostosis, Arrhyth... |
ORPHA:648 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Fibular aplasia, Agenesis of corpus callosum, Epicanthus, Hypoplast... |
OMIM:277170 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold |
OMIM:617572 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Portal fibrosis, Secundum atrial septal defect, Skeletal muscle atrophy, Cholestasis, Hepatic ste... |
OMIM:614300 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Wide nasal bridge, Right aortic arch with mirror image branching, Multil... |
OMIM:601186 |
| Meckel Syndrome, Type 1 |
|
Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Natal tooth, Large placenta, C... |
OMIM:249000 |
| Alagille Syndrome 1 |
|
Cholestasis, Axenfeld anomaly, Ventricular septal defect, Posterior embryotoxon, Cirrhosis, Atria... |
OMIM:118450 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Short palpebral fissure, Downslanted palpebral fissures, Decreased response to growth hormone sti... |
OMIM:617260 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Aborted sudden cardiac death, Dilated cardiomyopathy, Elevated circulat... |
OMIM:614921 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Highly arched eyebrow, Aortic regurgitation, Tetralogy of Fallot, Antevert... |
ORPHA:96147 |
| Toriello-Carey Syndrome |
|
Narrow chest, Short palpebral fissure, Sparse eyebrow, Clinodactyly, Cardiomyopathy, Tetralogy of... |
ORPHA:3338 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly, Delayed eruption of teeth, Hypogonadism, Small placenta, Congenital bilateral ptosi... |
ORPHA:73272 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Broad thumb, Frontal balding, Overlapping toe, Bicuspid aortic valve, Epicanthus, Sutural catarac... |
OMIM:612474 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Ventricular septal defect, Epic... |
ORPHA:124 |
| Kleefstra Syndrome |
|
Highly arched eyebrow, Delayed eruption of teeth, Supernumerary nipple, Tetralogy of Fallot, Ante... |
ORPHA:261494 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Absent gallbladder, Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of th... |
ORPHA:3186 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... |
OMIM:613426 |
| Familial Drusen |
|
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... |
ORPHA:75376 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Natal tooth, Distal shortening of limbs, Bowing of the long bones, Short me... |
ORPHA:50945 |
| Diamond-Blackfan Anemia 1 |
|
Delayed cranial suture closure, Persistence of hemoglobin F, Ventricular septal defect, Epicanthu... |
OMIM:105650 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Junctional ectopic tachycardia, Cataract, Peters anomaly, Congenital diaphragmatic hernia, Histio... |
OMIM:309801 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... |
OMIM:142900 |
| Birk-Aharoni Syndrome |
|
Long nasal bridge, Muscular ventricular septal defect, Thick eyebrow, Cryptorchidism, Macrocytic ... |
OMIM:620071 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... |
ORPHA:1457 |
| Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Aortic valve stenosis, Alopecia, Capillary hemangioma, Abnormal cartilag... |
ORPHA:2396 |
| Halperin-Birk Syndrome |
|
Optic atrophy, Semilobar holoprosencephaly, Umbilical hernia, Long eyelashes, Congenital diaphrag... |
OMIM:618651 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... |
OMIM:613854 |
| Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Exudative vitreoretinopathy, Retinal detachment, Retinal hole, Retinal fold |
OMIM:605750 |
| Chondrodysplasia, Blomstrand Type |
|
Depressed nasal bridge, Narrow chest, Fetal ascites, Micromelia, Flared metaphysis, Advanced tars... |
OMIM:215045 |
| Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Natal tooth, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular s... |
ORPHA:2745 |
| Oculoectodermal Syndrome |
|
Wide nasal bridge, Depressed nasal bridge, Microcornea, Supernumerary nipple, Hypertrophic cardio... |
OMIM:600268 |
| Mycophenolate Mofetil Embryopathy |
|
Chorioretinal coloboma, Congenital diaphragmatic hernia, Eyelid coloboma, Ventricular septal defe... |
ORPHA:268249 |
| Fetal Akinesia Deformation Sequence 1 |
|
Thin ribs, Decreased muscle mass, Cryptorchidism, Hip contracture, Talipes equinovarus, Elbow ank... |
OMIM:208150 |
| Meacham Syndrome |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Dextrocar... |
OMIM:608978 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Cryptorchidism, Encephalocele, Ventricular septal defect, Limited elbow movement,... |
OMIM:134780 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... |
ORPHA:96334 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
| Myhre Syndrome |
|
Aortic valve stenosis, Clinodactyly, Overlapping toe, Cryptorchidism, Ventricular septal defect, ... |
OMIM:139210 |
| Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Congenital diaphragmatic hernia, Mitral regurgitation, Ventricular septal defe... |
OMIM:157800 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... |
OMIM:265380 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... |
OMIM:600001 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Arthritis, Anemia, Increased bone mineral density |
ORPHA:37748 |
| Placental Insufficiency |
|
Abnormal heart morphology, Abnormal placenta morphology, Small placenta, Abnormal umbilical cord ... |
ORPHA:439167 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Depressed nasal bridge, Narrow chest, Downslanted palpebral fissures, Atrioventricular canal defe... |
OMIM:617088 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Fanconi Anemia, Complementation Group B |
|
Bilateral radial aplasia, Absent thumb, Aplastic anemia, Hypogonadism, Ventricular septal defect,... |
OMIM:300514 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Pathologic fracture, Osteomyelitis, Pancytopenia, Hypocalcemia, Splenomegaly, Femu... |
OMIM:259700 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Natal tooth, Hypopituitarism, Polydactyly affecting t... |
ORPHA:672 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, Hamartoma of tongue, Complete atrioventricular canal ... |
OMIM:217085 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Wide nasal bridge, Broad nasal tip, Downslanted palpebral fissures, Atrioventricular canal defect... |
OMIM:619480 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Williams Syndrome |
|
Synostosis of joints, Megalocornea, Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitra... |
ORPHA:904 |
| Robinow Syndrome |
|
Flared nostrils, Marked delay in eruption of permanent teeth, Cryptorchidism, Ventricular septal ... |
ORPHA:97360 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Overlapping toe, Facial capillary hemangioma, Cryptorchidism, Hepatic... |
OMIM:270400 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Increased bone mineral density, Retinopathy, Hyperuricemia, Angioi... |
OMIM:239000 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Short palpebral fissure, Secundum atrial septal defect, Skeletal muscle atrophy, Decreased liver ... |
OMIM:608779 |
| Nicolaides-Baraitser Syndrome |
|
Wide nasal base, Dry hair, Broad 2nd toe, Unilateral narrow palpebral fissure, Cryptorchidism, Lo... |
OMIM:601358 |
| Dilated Cardiomyopathy With Ataxia |
|
Optic atrophy, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulating hepatic trans... |
ORPHA:66634 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Finger syndactyly, Premature birth, Thick eyebrow, Radioulnar synostosis, Epica... |
ORPHA:3268 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Abnormal leukocyte morpholo... |
ORPHA:53 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Wide nasal bridge, Clinodactyly, Bilateral ptosis, Tetralogy of Fallot, A... |
ORPHA:2209 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Hepatosplenomegaly, Large placenta, Barrel-shaped ches... |
OMIM:215140 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, I... |
OMIM:301068 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Hypocholesterolemia, Splenomegaly, Steatorrhea, Conjugated hyperbilirubinemia |
OMIM:607765 |
| Distal Deletion 15Q |
|
Small hand, Genu valgum, Cryptorchidism, Congenital diaphragmatic hernia, Bicuspid aortic valve, ... |
ORPHA:1596 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Mullegama-Klein-Martinez Syndrome |
|
Hypoplastic left heart, Wide nasal bridge, Depressed nasal bridge, High anterior hairline, Bulbou... |
OMIM:301022 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Clinodactyly, Agenesis of corpus callosum, Epicanthus, Bifid nose,... |
OMIM:136760 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Hepati... |
ORPHA:99413 |
| Turner Syndrome |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Hepati... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Hepati... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Genu valgum, Type II diabetes mellitus, Gastrointestinal angiodysplasia, Hepati... |
ORPHA:99226 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary hemorrhage, Joint contracture of the 5th finger, Cryptorchidism, Mitral regurgitation, ... |
ORPHA:363611 |
| Absence Of The Pulmonary Artery |
|
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s... |
ORPHA:980 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu... |
ORPHA:261183 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Wide nasal bridge, Dry hair, Short 3rd metacarpal, Short 4th toe, Short thumb, 2-4 toe cutaneous ... |
OMIM:618569 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Holt-Oram Syndrome |
|
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Sprengel anomal... |
ORPHA:392 |
| Kabuki Syndrome |
|
Precocious puberty, Short 5th finger, Small hand, Microcornea, Eversion of lateral third of lower... |
ORPHA:2322 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Small placenta, Oligohydramnios, Cryptorchidism, Polydactyly, Hyp... |
ORPHA:397590 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Alopecia, Coarctation of aorta, Hemangioma, Coloboma, Abnormal finger morphol... |
OMIM:163200 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Depressed nasal bridge, Clinodactyly, Radial deviation of finger, Umbilical hernia, HbH hemoglobi... |
OMIM:301040 |
| Fumarase Deficiency |
|
Depressed nasal bridge, Optic atrophy, Intrahepatic cholestasis, Hepatic failure, Cutaneous leiom... |
OMIM:606812 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Mandibular osteomyelitis, Cranial hyperostosis, Extramedullary hematopoiesis, Oste... |
OMIM:259710 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor... |
ORPHA:99050 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Curly hair, Hepatomegaly, Jaun... |
OMIM:222470 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal... |
ORPHA:1354 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Broad thumb, Natal tooth, Cryptorchidism, Ventricular septal defect, Bicus... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Broad thumb, Natal tooth, Cryptorchidism, Ventricular septal defect, Bicus... |
ORPHA:353277 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Increased variability in muscle fiber diameter, Elevated circulating hep... |
ORPHA:17 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Choanal atresia, Hypertrichosis, Muscular ventricular septal defect, Spina bifida occulta, Low po... |
OMIM:619227 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Noonan Syndrome 1 |
|
Clinodactyly, Cryptorchidism, Ventricular septal defect, Synovitis, Epicanthus, Low posterior hai... |
OMIM:163950 |
| Floating-Harbor Syndrome |
|
Broad thumb, Cryptorchidism, Low posterior hairline, Atrial septal defect, Broad fingertip, Dislo... |
OMIM:136140 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... |
OMIM:146510 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
High anterior hairline, Muscular ventricular septal defect, Adducted thumb, Brachydactyly, Hydroc... |
OMIM:620062 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Splenomegaly, Osteopetrosis, Thrombocytopenia, Anemia |
OMIM:615085 |
| Cardiomyopathy, Dilated, 2H |
|
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... |
OMIM:620203 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Abnormality of the spleen, Co... |
ORPHA:3097 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti... |
ORPHA:254534 |
| Galloway-Mowat Syndrome 3 |
|
Downslanted palpebral fissures, Oligohydramnios, Arachnodactyly, Epicanthus, Coarctation of aorta... |
OMIM:617729 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... |
OMIM:620066 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Abnormality of the spleen, Cryptorchidism, Congenital diaphragmatic herni... |
ORPHA:2162 |
| Squalene Synthase Deficiency |
|
Elbow flexion contracture, Hypocholesterolemia, Knee flexion contracture, Decreased LDL cholester... |
OMIM:618156 |
| Esophageal Atresia |
|
Choanal atresia, Barrett esophagus, Gastrointestinal carcinoma, Clinodactyly, Tetralogy of Fallot... |
ORPHA:1199 |
| 17Q11 Microdeletion Syndrome |
|
Glioma, Neurofibrosarcoma, Brainstem glioma, Large hands, Brain neoplasm, Leukemia, Cerebellar gl... |
ORPHA:97685 |
| Congenital Syphilis |
|
Optic atrophy, Cataract, Keratitis, Premature birth, Extramedullary hematopoiesis, Hepatosplenome... |
ORPHA:499009 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad thumb, Natal tooth, Cryptorchidism, Ventricular septal defect, Bicus... |
ORPHA:353281 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Acanthocytosis, Retinopathy |
ORPHA:71 |
| Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... |
OMIM:619371 |
| Aortic Valve Disease 2 |
|
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... |
OMIM:614823 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Elevated pul... |
ORPHA:99094 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Macroglossia, Depressed nasal bridge, Thoracic hypoplasia, Umbilical hernia, Anteverted nares, La... |
ORPHA:254528 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Bell-shaped thorax, Cryptorchidism, Encephaloc... |
OMIM:108720 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary ... |
ORPHA:1926 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma... |
ORPHA:1900 |
| 8P23.1 Microdeletion Syndrome |
|
Broad thumb, Cryptorchidism, Congenital diaphragmatic hernia, Epicanthus, Patent ductus arteriosu... |
ORPHA:251071 |
| Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Short palpebral fissure, Toe syndactyly, Short thumb, Abnormal heart mor... |
ORPHA:391641 |
| Mungan Syndrome |
|
Barrett esophagus, Bilateral ptosis, Tricuspid regurgitation, Abnormality of the autonomic nervou... |
OMIM:611376 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Abdominal situs inversus, Atrial reentry tachycardia, At... |
OMIM:270100 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Cryptorchidism, Low posterior hairline, Epicanthus, Bicuspid aortic valve, Ovarian ... |
ORPHA:1772 |
| Carpenter Syndrome 1 |
|
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... |
OMIM:201000 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Increased anterioposterior diameter of thorax, Sparse eyelashes, Absent eyelashes, N... |
OMIM:275210 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Depressed nasal bridge, Alopecia, Coarse hair, Anteverted nares, Brittle hair, Upslanted palpebra... |
ORPHA:75389 |
| Kabuki Syndrome 1 |
|
Lateral ventricle dilatation, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Au... |
OMIM:147920 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Abnormal cranial nerve morphology, Ventricular septal defect, Conge... |
ORPHA:2345 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Lateral ventricle dilatation, Hyphema, Ectopia pupillae, Long hallux, Genu... |
ORPHA:261552 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Pigmentary retinopathy, Hypocholesterolemia, Abnormal erythrocyte morphology, Acan... |
ORPHA:96180 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Keratoconus, Downslanted pa... |
ORPHA:52 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, Mitral regurgitation, Pulmonary edema, Bicuspid aortic valve, Bilateral... |
OMIM:220111 |
| Wrinkly Skin Syndrome |
|
Wide nasal bridge, Congenital hip dislocation, Hypoplasia of the musculature, Premature rupture o... |
OMIM:278250 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Microcytic anem... |
ORPHA:90308 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilir... |
OMIM:259720 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Cryptorchidism, Abnormal aortic morphology, Abnormality of the pulmonary art... |
ORPHA:1166 |
| Kagami-Ogata Syndrome |
|
Thin ribs, Bell-shaped thorax, Ventricular septal defect, Atrial septal defect, Blepharophimosis,... |
OMIM:608149 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Exudative Vitreoretinopathy 1 |
|
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Vitre... |
OMIM:133780 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Cavernous hemangioma of the face, Right aortic arch, Supraumbilical raphe, Coarcta... |
OMIM:140850 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Macular edema, Peripheral retinal atrophy, Leukopenia, ... |
OMIM:616959 |
| Floating-Harbor Syndrome |
|
Clinodactyly, Cryptorchidism, Atrial septal defect, Broad fingertip, Long nose, Dislocated radial... |
ORPHA:2044 |
| Atelosteogenesis Type Ii |
|
Wide nasal base, Elbow dislocation, Bell-shaped thorax, Genu valgum, Epicanthus, Broad phalanx, B... |
ORPHA:56304 |
| Trisomy 13 |
|
Optic atrophy, Narrow chest, Cataract, Ectrodactyly, Capillary hemangioma, Cryptorchidism, Aplasi... |
ORPHA:3378 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Papilledema, Transient hypophosp... |
OMIM:127000 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Cry... |
ORPHA:84 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... |
OMIM:618748 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Hypopigmentation of the fundus, Delayed patellar ossification, Retinal detachment, Abnormal bone ... |
ORPHA:163649 |
| Majeed Syndrome |
|
Osteomyelitis, Leukocytosis, Increased susceptibility to fractures, Splenomegaly, Synovitis, Cong... |
ORPHA:77297 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Joubert Syndrome 15 |
|
Coloboma, Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Contracture of the distal interphalangeal joint of the fingers, Overlapping toe, Crypt... |
ORPHA:83617 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Underdeveloped nasal alae, Abnormal aortic morphology, Truncus ar... |
ORPHA:2516 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Lateral ventricle dilatation, Long hallux, Genu valgum, Cryptorchidism, Ax... |
ORPHA:261537 |
| 2Q37 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Congenital diaphragmatic her... |
ORPHA:1001 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Congestive he... |
ORPHA:3400 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Depressed nasal bridge, Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, F... |
OMIM:620558 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Increased anterioposterior diameter of thorax, Mitral regurgitation, Vent... |
ORPHA:99125 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Coarctation of aorta, Brachydactyly, Pectus excavatum, Double aortic arch, Vascular... |
OMIM:616954 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Coronal craniosynostosis, Decreased mean corpuscular volume, Increased... |
OMIM:616943 |
| Kagami-Ogata Syndrome |
|
Depressed nasal bridge, Frontal hirsutism, Thoracic hypoplasia, Anteverted nares, Large placenta,... |
ORPHA:254519 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Aortic dissection, Anterior cerebral artery stenosis, Abnormal iris pigment... |
OMIM:132900 |
| Dysosteosclerosis |
|
Optic atrophy, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Increased bone mi... |
ORPHA:1782 |
| Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... |
ORPHA:94089 |
| Renpenning Syndrome |
|
Iris coloboma, Cataract, Alopecia, Skeletal muscle atrophy, Broad columella, Abnormal hairshaft m... |
ORPHA:3242 |
| Trisomy 1Q |
|
Depressed nasal bridge, Toe syndactyly, Abnormal rib morphology, Camptodactyly of finger, Preaxia... |
ORPHA:261344 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Sparse scalp hair, Supernumerary n... |
OMIM:601803 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Epicanthus, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Coarctat... |
OMIM:600460 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti... |
OMIM:620025 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Genu valgum, Cryptorchidism, Axenfeld anomaly, Agenesis of corpus callosum... |
ORPHA:2152 |
| Acrofacial Dysostosis 1, Nager Type |
|
Toe syndactyly, Clinodactyly, Overlapping toe, Congenital diaphragmatic hernia, Ventricular septa... |
OMIM:154400 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Hypopigmentation of the fundus, Hypocholesterol... |
ORPHA:14 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposition of the great arteri... |
OMIM:619657 |
| Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Aortic regurgitation, Aortic root aneurysm, Aortic dissection... |
ORPHA:229 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly |
OMIM:608776 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Fryns Syndrome |
|
Wide nasal bridge, Abnormal aortic arch morphology, Narrow chest, Short distal phalanx of finger,... |
ORPHA:2059 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Epicanthus, Hepatom... |
OMIM:269860 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Microcornea, Broad thumb, Short palpebral fissure, Interphalangeal joint contrac... |
OMIM:151200 |
| Autosomal Recessive Robinow Syndrome |
|
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Cr... |
ORPHA:1507 |
| Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Keratoconus, Aortic root aneurysm, Generalized ar... |
OMIM:208050 |
| Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Aortic regurgitation, Peripheral pulmonary artery stenosis, Delayed cranial sutu... |
ORPHA:90348 |
| Craniodiaphyseal Dysplasia |
|
Wide nasal bridge, Optic atrophy, Depressed nasal bridge, Diaphyseal undertubulation, Abnormal ri... |
ORPHA:1513 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Agenesis of corpu... |
ORPHA:95494 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Wide nasal bridge, Cataract, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal met... |
ORPHA:93267 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Cryptorchidism, Low posterior hairline, Epicanthus, Symphalangism affecting th... |
ORPHA:2990 |
| Giant Axonal Neuropathy |
|
Abnormal hand morphology, Genu valgum, Limb muscle weakness, Pili canaliculi, Abnormality of the ... |
ORPHA:643 |
| Pagod Syndrome |
|
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Abnormal clavicle morphology,... |
ORPHA:991 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Epicanthus, Aplasia of metacarpal bones, Atrial septal defect, Small t... |
OMIM:607323 |
| Dextrocardia |
|
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, ... |
ORPHA:1666 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Pectus carinatum, Mitral valve prolapse, Arachnodactyly, Aortic tortuosity, Ascending aortic diss... |
OMIM:616166 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Anemi... |
ORPHA:3405 |
| Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morph... |
ORPHA:3310 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Aortic root aneurysm, Ventricular septal defect, Curly hair, Patent ductus arteriosus... |
ORPHA:444077 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Optic nerve compression, ... |
OMIM:259730 |
| Charge Syndrome |
|
Chorioretinal coloboma, Abnormal tibia morphology, Abnormal cranial nerve morphology, Cryptorchid... |
ORPHA:138 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Congenital diaphragmatic hernia, Encephalocele, Ventricular septal d... |
ORPHA:2369 |
| Mosaic Trisomy 14 |
|
Wide nasal bridge, Narrow chest, Camptodactyly of finger, Anteverted nares, Prominent nasal bridg... |
ORPHA:1703 |
| Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Increased bone mineral density, Hypocalcemi... |
ORPHA:36913 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Atelosteogenesis Type I |
|
Laryngotracheal stenosis, Narrow chest, Rhizomelia, Joint dislocation, Thoracic hypoplasia, Telec... |
ORPHA:1190 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Diaphyseal undertubulation, Wid... |
ORPHA:217085 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis, Ulnar deviation of finger, Skeletal muscle atrophy, Downslanted palpebral fi... |
ORPHA:1358 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ven... |
OMIM:602782 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... |
OMIM:614856 |
| Giant Cell Arteritis |
|
Optic atrophy, Epistaxis, Vasculitis, Hepatic failure, Aortic dissection, Double outlet right ven... |
ORPHA:397 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Osteopenia, Hypocholesterolemia, Rod-cone dystrophy, Thrombocytosis, Steatorrhea... |
OMIM:212065 |
| Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Choroidal neovascularization, Retinal crystals, Pathologic fracture, Hyperoxaluria... |
OMIM:259900 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Finger syndactyly, Facial capillary hemangioma, Cryptorchidism, Conge... |
ORPHA:818 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Hepatosplenomegaly, Abnormal mitral valve morphology, Arrhythmia, Diaphyseal undertubulation, Wid... |
ORPHA:217093 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Aortic regurgitation, ... |
ORPHA:402075 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Cantú Syndrome |
|
Finger syndactyly, Low posterior hairline, Epicanthus, Generalized hirsutism, Short hallux, Paten... |
ORPHA:1517 |
| 22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Posterior embryot... |
ORPHA:567 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Tetralogy of Fallot, Decreased testicular size, Oligohydramnios, Cryp... |
ORPHA:2970 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Papilledema, Arthritis, Elevated circulat... |
OMIM:607115 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Abdominal aortic aneurysm, Congenital diaphragmatic hernia, Intervertebr... |
OMIM:619656 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Depressed nasal bridge, Short thorax, Finger syndactyly, Camptodactyly of finger, Umbilical herni... |
ORPHA:2311 |
| Frontometaphyseal Dysplasia |
|
Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ... |
ORPHA:1826 |
| Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Bicuspid aortic valve, Talip... |
OMIM:617137 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Choanal atresia, Abnormal heart morphology, Abnormality ... |
ORPHA:91412 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Broad phalanges of the hand, Mitral regurgitation, Ventricular septal defe... |
OMIM:608328 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Extension of hair growth on templ... |
OMIM:219000 |
| Achondrogenesis Type 1B |
|
Narrow chest, Short thorax, Micromelia, Umbilical hernia, Thickened nuchal skin fold, Anteverted ... |
ORPHA:93298 |
| Vater/Vacterl Association |
|
Choanal atresia, Occipital encephalocele, Short thumb, Abnormal sternum morphology, Preaxial poly... |
OMIM:192350 |
| Hurler Syndrome |
|
Endocardial fibroelastosis, Generalized hirsutism, Hepatomegaly, Abnormality of the elbow, Cornea... |
ORPHA:93473 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Thin ribs, Joint contracture of the hand, Genu valgum, Cryptorchidism, Mitral valve prolapse, Ara... |
OMIM:182212 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal mitral valve morphology, Arrhythmia, Hepatomegaly, Wide nose, Abnormal heart morphology,... |
ORPHA:580 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Arachnodactyly, Bicuspid aortic valve, Carotid a... |
ORPHA:91387 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Optic nerve compression, Anemia, Cortical thickening of long bone diaphy... |
OMIM:131300 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... |
OMIM:613751 |
| Gabriele-De Vries Syndrome |
|
Aortopulmonary collateral arteries, Sparse eyebrow, Broad nasal tip, Sandal gap, Lateral ventricl... |
OMIM:617557 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Supernumerary nipple, Broad ribs, Congenital hypothyroidism, Cryptor... |
ORPHA:2519 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Tetralogy of Fallot, Abnormal clavicle morphology, Upslanted palpebral fissure, Abnormal rib morp... |
ORPHA:276422 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Mitral regurgitation, Limited elbow movement, Sparse eyelashes, Right atrial enlargeme... |
OMIM:614008 |
| Gaucher Disease |
|
Cherry red spot of the macula, Pancytopenia, Elevated circulating C-reactive protein concentratio... |
ORPHA:355 |
| Beckwith-Wiedemann Syndrome |
|
Subchorionic septal cyst, Large placenta, Cryptorchidism, Congenital diaphragmatic hernia, Hepato... |
ORPHA:116 |
| Cranioectodermal Dysplasia 2 |
|
Clinodactyly, Cholestasis, Sparse eyelashes, Epicanthus, Atrial septal defect, Blepharophimosis, ... |
OMIM:613610 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Cataract, Micromelia, Cryptorchidism, Ventricular septal defect, Single u... |
ORPHA:2772 |
| Craniofacial Microsomia 1 |
|
Hypoplasia of facial musculature, Block vertebrae, Occipital encephalocele, Cervical ribs, Tetral... |
OMIM:164210 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Short distal phalanx of finger, Broad nasal tip, Abnormality of the costoc... |
ORPHA:79345 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... |
OMIM:208530 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Aortic root aneurysm, Arachnodactyly, Blepharophimosis, Hip dislocation, Short nose,... |
ORPHA:3342 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, White forelock, Epicanthus, Sprengel anomaly, ... |
ORPHA:2475 |
| Simpson-Golabi-Behmel Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Supernumerary nipple, Cryptorchidism, Congenital ... |
ORPHA:373 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... |
ORPHA:2255 |
| 1P36 Deletion Syndrome |
|
Delayed cranial suture closure, Abnormality of the spleen, Cryptorchidism, Myopathy, Hepatic stea... |
ORPHA:1606 |
| Trisomy 18 |
|
Choanal atresia, Iris coloboma, Microcornea, Deviation of finger, Cataract, Camptodactyly of fing... |
ORPHA:3380 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Cervical myelopathy, Recurrent upper respiratory tract infections, Intimal... |
OMIM:253010 |
| Loeys-Dietz Syndrome 4 |
|
Aortic root aneurysm, Aortic dissection, Abnormal sternum morphology, Arterial tortuosity, Dilata... |
OMIM:614816 |
| Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Basal cell carcinoma, I... |
OMIM:109400 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Anteverted nares, Congenital diaphragmatic hernia, Ven... |
ORPHA:1488 |
| Mucopolysaccharidosis, Type Vi |
|
Genu valgum, Mitral regurgitation, Hepatomegaly, Pectus carinatum, Tricuspid regurgitation, Mitra... |
OMIM:253200 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Wide nasal base, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Diaph... |
OMIM:601559 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Wide nasal bridge, Depressed nasal ridge, Broad thumb, Finger syndactyly, Delayed cranial suture ... |
ORPHA:2211 |
| Pseudo-Torch Syndrome 2 |
|
Thin ribs, Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect... |
OMIM:617397 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Hypoplastic left heart, Broad thumb, Abnormal aortic morphology, Upslanted palpebral fissure, Cli... |
ORPHA:2001 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Overlapping toe, Low posterior hairline, Talipes equinovarus, Epicanthus, S... |
OMIM:213980 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetr... |
OMIM:618476 |
| Poland Syndrome |
|
Small hand, Acute leukemia, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism,... |
ORPHA:2911 |
| Proteus-Like Syndrome |
|
Genu recurvatum, Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous... |
ORPHA:2969 |
| Igg4-Related Ophthalmic Disease |
|
Abnormality of the anterior pituitary, Abnormal lacrimal gland morphology, Abnormality of the orb... |
ORPHA:449563 |
| Omodysplasia 1 |
|
Short tibia, Limited knee flexion/extension, Limited elbow flexion, Cryptorchidism, Ventricular s... |
OMIM:258315 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Ventricular septal ... |
OMIM:300166 |
| Jeune Syndrome |
|
Narrow chest, Toe syndactyly, Abnormal clavicle morphology, Short thorax, Abnormal sternum morpho... |
ORPHA:474 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Optic atrophy, Broad thumb, Short nail, Thumb contracture, Downslanted palpebral fissures, Bilate... |
ORPHA:324540 |
| Dysosteosclerosis |
|
Osteopenia, Optic atrophy, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibil... |
OMIM:224300 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve aplasia, Cryptorchidism, Ventricular septal defect, Missing ribs, Hypogonad... |
OMIM:206900 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... |
ORPHA:90652 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... |
OMIM:620294 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Fractured rib, Ovarian cyst, Patent ductus arteriosus, Femoral bowing, Undulate ribs, ... |
OMIM:618188 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Megalocornea, Anterio... |
OMIM:228520 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Metatropic Dysplasia |
|
Depressed nasal bridge, Narrow chest, Cataract, Coarse metaphyseal trabecularization, Micromelia,... |
ORPHA:2635 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Gorlin Syndrome |
|
Cryptorchidism, Arachnodactyly, Epicanthus, Anterior rib cupping, Basal cell carcinoma, Iris colo... |
ORPHA:377 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Thoracolumbar kyphosis, Slender finger, Multiple joint dislocation, Elbow flexion contracture, Pr... |
ORPHA:93360 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Multiple muscular ventricular septal defects, Sparse hair, Pulmonic stenosis, Reduced circulating... |
OMIM:615508 |
| Monosomy 9Q22.3 |
|
Cataract, Delayed eruption of teeth, Umbilical hernia, Downslanted palpebral fissures, Medullobla... |
ORPHA:77301 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia |
ORPHA:31150 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Mucopolysaccharidosis Type 3 |
|
Genu valgum, Abnormal mitral valve morphology, Generalized hirsutism, Hepatomegaly, Cataract, Thi... |
ORPHA:581 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Premature rupture of membranes, Slender finger, Aortic dissection, Underdeveloped nasal alae, Ups... |
OMIM:618343 |
| Vacterl/Vater Association |
|
Aplasia/Hypoplasia of the radius, Occipital encephalocele, Finger syndactyly, Preaxial hand polyd... |
ORPHA:887 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Acute megakaryocytic leukemia, Ventricular septal defect... |
OMIM:190685 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Optic atrophy, Optic nerve compression, Splenomegaly, Femur ... |
OMIM:612301 |
| Poems Syndrome |
|
Polycythemia, Sclerosis of foot bone, Sclerosis of hand bone, Sclerosis of skull base, Splenomega... |
ORPHA:2905 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Alopecia, Finger syndactyly, Congenit... |
ORPHA:1647 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Unbalanced atrioventricular canal defect, Broad thumb, Lateral ventricle dilatation, Cholestasis,... |
OMIM:619534 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Abnormality of retinal pigmentation, Increased bone mineral density |
ORPHA:902 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Narrow chest, Delayed eruption of teeth, Optic nerve compression, Abnormal pulmonary valve morpho... |
ORPHA:667 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Natal tooth, Fibular aplasia, Ventricular septal defect, Arachnoda... |
OMIM:300373 |
| Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Intermittent claudication, Stroke, Renovascular hypertension, Arterial fibromu... |
|
