Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Optic atrophy, Ptosis, Double outlet right ventricle, Abnormal heart morphology, Coarctation of a... |
OMIM:618164 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Pectus excavatum, Pectus carinatum, Talipes equinovarus,... |
OMIM:616145 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge, Chorioretinal coloboma,... |
ORPHA:284169 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Upslanted palp... |
OMIM:601927 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Retinal coloboma, Abnormality of t... |
ORPHA:508498 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... |
OMIM:614300 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Hypoplastic nasal tip, 2-3 toe syndactyly, Persistent left superior vena cava, Double outlet righ... |
ORPHA:3304 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Highly arched eyebrow, Ventricular septal defect, Laterally extended eyebrow, 2-3 toe syndactyly,... |
OMIM:600987 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Persis... |
ORPHA:477817 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Van Buchem Disease |
|
Cranial hyperostosis, Thickened cortex of long bones, Optic atrophy from cranial nerve compressio... |
OMIM:239100 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... |
OMIM:241520 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Anemia, Osteopenia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Hirsutism, Iris coloboma, Type I diabetes mellitus, Pterygium, Sclerotic c... |
ORPHA:371428 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, C... |
ORPHA:363705 |
Mullegama-Klein-Martinez Syndrome |
|
Prominent nose, Depressed nasal bridge, Polydactyly, Low anterior hairline, Congenital diaphragma... |
OMIM:301022 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Limited hip movement, Leukocytosis, Delayed femoral head ossification, Multicentric femoral head ... |
ORPHA:168621 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Anemia, Cirrhosis, Hepato... |
ORPHA:101028 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Depressed nasal bridge, Myelomeningocele, Tripha... |
ORPHA:2876 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
Mosaic Trisomy 1 |
|
Deviation of the 5th toe, Hepatic agenesis, Broad toe, Complete duplication of thumb phalanx, Pol... |
ORPHA:1692 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia, Depressed nasal bridge, Hepatic fibrosis... |
OMIM:606003 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pectus excavatum, Short 5th metacarpal, Perimembranous ventricular septal defect, Short nose, Dow... |
OMIM:617877 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Adducted thumb, Fetal akinesia sequence, Talipes equinovarus, Torticol... |
OMIM:617022 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Craniosynostosis, Arachnodacty... |
ORPHA:261243 |
Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Convex nasal ridge, Atrioventricular canal defect, Congenita... |
ORPHA:2409 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Osteoporosis, Rod-cone dystrophy, Increased bone mine... |
OMIM:136300 |
Septopreoptic Holoprosencephaly |
|
Perisylvian polymicrogyria, Megalencephaly, Coarctation of aorta, Abnormal corpus callosum morpho... |
ORPHA:280195 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Talipes equinovarus, Bilateral radial aplasia, Finger syndactyly, Hepatosplenomegaly,... |
OMIM:274000 |
Sandestig-Stefanova Syndrome |
|
Highly arched eyebrow, Developmental cataract, Laterally extended eyebrow, Convex nasal ridge, Ro... |
OMIM:618804 |
Osteomalacia, Sclerosing, With Cerebral Calcification |
|
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density |
OMIM:259660 |
Mental Retardation, Autosomal Dominant 21 |
|
Coarctation of aorta, Epicanthus, Long eyelashes, Patent ductus arteriosus, Atrial septal defect,... |
OMIM:615502 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Triphalangeal thumb, Abnormal aortic valve morphology, Atrioventricular ca... |
ORPHA:1120 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Fg Syndrome Type 1 |
|
Abnormal sternum morphology, Broad toe, Finger syndactyly, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:93932 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Asymmetry of the thorax, Coarctation of aorta, Facial palsy, Epicanthus, Wide nasal bridge, Delay... |
ORPHA:2780 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Short nose, Patent ductus arteriosus, Bulbous nose, Polymicrogyria, Anteverted nares, Umbilical h... |
OMIM:618454 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Retinal dystrophy, Osteoporosis, Rod-cone dystrophy, Steatorrhea |
OMIM:266510 |
Noonan Syndrome 2 |
|
Shield chest, Leukemia, Abnormal sternum morphology, Abnormal coronary artery origin, Cubitus val... |
OMIM:605275 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Depressed nasal bridge, Atrioventricular canal defect, Coarctation of aorta, Teleca... |
OMIM:618929 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Alg3-Cdg |
|
Coarctation of the descending aortic arch, Neural tube defect, Macroglossia, Cerebral white matte... |
ORPHA:79321 |
Isolated Osteopoikilosis |
|
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... |
ORPHA:166119 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Short nose, Iris coloboma, Finger syndactyly, Toe clinodactyly, Long hallux... |
ORPHA:2308 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Noonan Syndrome 10 |
|
Cubitus valgus, Mitral stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricul... |
OMIM:616564 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Dysplastic corpus callosum, Long nose, Abnormal heart morphology, Perimembra... |
ORPHA:363444 |
Sclerosteosis |
|
Optic atrophy, Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone ... |
ORPHA:3152 |
Phace Association |
|
Optic atrophy, Ventricular septal defect, Developmental cataract, Congenital hypothyroidism, Ling... |
OMIM:606519 |
Apert Syndrome |
|
Cutaneous finger syndactyly, Delayed eruption of teeth, Hydrocephalus, Overriding aorta, Delayed ... |
OMIM:101200 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Kaufman Oculocerebrofacial Syndrome |
|
Short nose, Telecanthus, Anteverted nares, Sparse and thin eyebrow, Sparse hair, Ventricular sept... |
OMIM:244450 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Narrow palpebral fissure, Truncus arteriosus, Depressed nasal bridge, ... |
ORPHA:3426 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Convex nasal ridge, Genu varum, Downslanted palpebral fissures, ... |
ORPHA:1110 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Depressed nasal bridge, Aortic regurgitation, Coarctation of aorta, Ep... |
OMIM:614114 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Short clavicles, Ptosis, Tapered finger, Upslanted palpebral fissure, ... |
OMIM:617159 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Osteopoikilosis, Increased bone mineral density |
ORPHA:1562 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
Hypoplastic Left Heart Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Intermediate Osteopetrosis |
|
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Generalized os... |
ORPHA:210110 |
Alg12-Cdg |
|
Decreased serum insulin-like growth factor 1, Talipes equinovarus, Proximal placement of thumb, P... |
ORPHA:79324 |
Phace Syndrome |
|
Visceral angiomatosis, Aortic root aneurysm, Abnormal sternum morphology, Capillary hemangioma, I... |
ORPHA:42775 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Coarctation of aorta, Generalized amyotrophy, Shoulder girdle muscle atrophy, E... |
OMIM:619178 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Facial hema... |
OMIM:617506 |
Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, 2-3 toe syndacty... |
OMIM:264480 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3416 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... |
OMIM:231095 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Ptosis, Coarctation of aorta, Sparse eyebrow, Downslanted palpebral fi... |
OMIM:616559 |
Restrictive Dermopathy |
|
Short nail, Telecanthus, Patent ductus arteriosus, Small placenta, Short palpebral fissure, Aplas... |
ORPHA:1662 |
Encephalocraniocutaneous Lipomatosis |
|
Visceral angiomatosis, Osteochondrosis, Capillary hemangioma, Subcortical cerebral atrophy, Iris ... |
ORPHA:2396 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Talipes equinovarus, Upslanted palpebral fissure, Coarctation of aorta, Telecanthus, Mitral steno... |
OMIM:617260 |
Kabuki Syndrome 2 |
|
Highly arched eyebrow, Broad nasal tip, Hirsutism, Atrioventricular canal defect, Sparse lateral ... |
OMIM:300867 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus |
OMIM:601612 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... |
ORPHA:2790 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Ventricular septal defect, Toe syndactyly, Truncus arteriosus, Coarctation of aort... |
ORPHA:2008 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Ankylosis, Retinal degeneration, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone m... |
OMIM:239000 |
Mosaic Variegated Aneuploidy Syndrome |
|
Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Aplasia/Hypoplasia of the corpus callo... |
ORPHA:1052 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Optic atrophy, Diaphyseal sclerosis, Papilledema, Craniofacial hyperostosis, Cortical sclerosis, ... |
OMIM:122860 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Highly arched eyebrow, Conotruncal defect, Macroglossia, Aortic regurgitation, Coarctation of aor... |
ORPHA:96147 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Neutropenia, Coarctation of aorta, Anemia, Pulmonary arterial hypertension, Atrial septal defect,... |
OMIM:614857 |
Charge Syndrome |
|
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Retinal coloboma, Decreased response t... |
OMIM:214800 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Splenomegaly, Iris coloboma, Accessory spleen, Adrenal hypoplasia, Synd... |
OMIM:249000 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... |
ORPHA:1686 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hirsutism, Hip contracture, Thyroid hypoplasia, Mitral atresia, Decreased response to growth horm... |
OMIM:619503 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Maternal diabetes, Preeclampsia, Abnormal heart morphology, Premature ... |
ORPHA:1708 |
Congenital Gerbode Defect |
|
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... |
ORPHA:99095 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma |
OMIM:107550 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610947 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia of the nose, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia... |
ORPHA:3186 |
Blackfan-Diamond Anemia |
|
Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Osteosarcoma, Reticu... |
ORPHA:124 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly, Periv... |
OMIM:619170 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Histiocytoid cardiomyopathy, Colpocephaly, Congenital diaphragmatic he... |
OMIM:309801 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Narrow nose, Pectus excavatum, Long nose, Congenital diaphragmatic her... |
OMIM:617602 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyelashes, Hip contracture, 11 pairs of ribs, Elbow dislocation, Absent knee epiphyses, Sh... |
OMIM:210710 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones |
ORPHA:564003 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Polyhydramnios, Abno... |
ORPHA:1923 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... |
OMIM:601186 |
Halperin-Birk Syndrome |
|
Optic atrophy, Developmental cataract, Agenesis of corpus callosum, Talipes equinovarus, Colpocep... |
OMIM:618651 |
Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Patent ductus arteriosus, Small placenta, Finger syndactyly, Ptery... |
OMIM:256520 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Low anterior hairline, Ptosis, Congenital bilateral ptosis, Concave nasal ridge, Small placenta, ... |
ORPHA:73272 |
Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... |
OMIM:614921 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Horizontal ribs, Short clavicles, Depressed nasal bridge, Atrioventricular canal de... |
OMIM:617088 |
Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... |
ORPHA:566943 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Talipes equinovarus, Mac... |
ORPHA:261494 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Long Qt Syndrome 16 |
|
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... |
OMIM:618782 |
Melorheostosis |
|
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... |
ORPHA:2485 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Chorioretinal coloboma, Congenital diaphragmatic hernia, Coarctation o... |
ORPHA:268249 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... |
ORPHA:185 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... |
ORPHA:2209 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Proximal placement of thumb, Patent ductus arteriosus, Hip subluxation, Hydro... |
OMIM:270400 |
Blomstrand Lethal Chondrodysplasia |
|
Short nose, Telecanthus, Short ribs, Aplastic clavicle, Short thorax, Distal shortening of limbs,... |
ORPHA:50945 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Depressed nasal bridge, Hypochromi... |
OMIM:301040 |
Dilated Cardiomyopathy With Ataxia |
|
Dilated cardiomyopathy, Optic atrophy, Microvesicular hepatic steatosis, Prolonged QT interval, H... |
ORPHA:66634 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Upper limb undergrowth, Hypoplastic nipples, Prominent calcaneus, Short ribs, Short palpebral fis... |
ORPHA:96334 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Truncus arteriosus, Pancreatic hypoplasia, Double outlet left ventricle, Aplasia of the left hemi... |
OMIM:600001 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Bilateral radial aplasia, Coarctation of aorta, Patent ductus arterios... |
OMIM:300514 |
Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Enlarged ovaries, Telecanthus, Patent ductus arteriosus, Anteverted nares, ... |
ORPHA:2745 |
Diamond-Blackfan Anemia 1 |
|
Neutropenia, Tricuspid stenosis, Triphalangeal thumb, Hypoplasia of the radius, 11 pairs of ribs,... |
OMIM:105650 |
Exudative Vitreoretinopathy 3 |
|
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
Myhre Syndrome |
|
2-3 toe syndactyly, Skeletal muscle hypertrophy, Laryngotracheal stenosis, Patent ductus arterios... |
OMIM:139210 |
Familial Drusen |
|
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... |
ORPHA:75376 |
Oculoectodermal Syndrome |
|
Hypertrophic cardiomyopathy, Limbal dermoid, Microcornea, Depressed nasal bridge, Coarctation of ... |
OMIM:600268 |
Placental Insufficiency |
|
Eclampsia, Preeclampsia, Abnormal heart morphology, Maternal hypertension, Spontaneous abortion, ... |
ORPHA:439167 |
Opitz Gbbb Syndrome, Type Ii |
|
Ventricular septal defect, Depressed nasal bridge, Agenesis of corpus callosum, Pulmonary arteria... |
OMIM:145410 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Premature birth, Epicanthus, F... |
ORPHA:3268 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... |
ORPHA:261183 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... |
ORPHA:1457 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus, Partial agenesis of the corpus callosum, Broad nasal tip, Tapered... |
OMIM:619480 |
Pallister-Hall Syndrome |
|
Abnormal prolactin level, Distal arthrogryposis, Arrhinencephaly, Polydactyly affecting the 4th f... |
ORPHA:672 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... |
OMIM:613759 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis |
OMIM:607634 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis, Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic atrophy, Optic disc pallor, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticu... |
OMIM:611490 |
Alagille Syndrome 1 |
|
Peripheral pulmonary artery stenosis, Papillary thyroid carcinoma, Prolonged neonatal jaundice, V... |
OMIM:118450 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... |
OMIM:265380 |
Meacham Syndrome |
|
Bicuspid aortic valve, Neonatal death, Aplasia of the left hemidiaphragm, Patent ductus arteriosu... |
OMIM:608978 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density |
ORPHA:37748 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Truncus arteriosus, Retinal coloboma, Capillary hemangioma, Patent ductus arterio... |
ORPHA:508488 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... |
OMIM:217095 |
Robinow Syndrome |
|
Short nose, Syndactyly, Anteverted nares, Umbilical hernia, Ventricular septal defect, Depressed ... |
ORPHA:97360 |
Distal Trisomy 14Q |
|
Abnormal aortic morphology, Aplasia/Hypoplasia of the corpus callosum, Patent ductus arteriosus |
ORPHA:1705 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hemimegalencephaly, Hemangioma, Alopecia, Coarctation of aorta, Basal cell carcinoma, Abnormality... |
OMIM:163200 |
Fetal Akinesia Deformation Sequence 1 |
|
Talipes equinovarus, Generalized amyotrophy, Telecanthus, Small placenta, Short palpebral fissure... |
OMIM:208150 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd metacarpal, Dry hair, Dysplastic corpus callosum, Low anterior hairline, Short 5th meta... |
OMIM:618569 |
Williams Syndrome |
|
Bicuspid aortic valve, Hallux valgus, Peripheral pulmonary artery stenosis, Short nose, Patent du... |
ORPHA:904 |
Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... |
ORPHA:53 |
Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, P... |
OMIM:259700 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Hypertrichosis, Wide nose, Fused cervical vertebrae, Sprengel anomaly, Muscular... |
OMIM:619227 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Increased intramyocellular lipid droplets, Leukoencephalopathy, Patent ductus arteriosus, Cerebra... |
ORPHA:17 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Kabuki Syndrome |
|
Microcornea, Highly arched eyebrow, Short middle phalanx of finger, Ptosis, Sparse lateral eyebro... |
ORPHA:2322 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... |
ORPHA:216694 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density |
OMIM:166740 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... |
OMIM:613426 |
Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, 2-3 toe syndactyly, Short nose, Patent ductus arteriosus, Anteverted nares,... |
ORPHA:363611 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration |
OMIM:616834 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
Hardikar Syndrome |
|
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Patent d... |
OMIM:301068 |
Distal Monosomy 15Q |
|
Bicuspid aortic valve, Decreased serum insulin-like growth factor 1, Talipes equinovarus, Mitral ... |
ORPHA:1596 |
Distal Osteosclerosis |
|
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis |
OMIM:126250 |
Osteopetrosis, Autosomal Recessive 2 |
|
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, ... |
OMIM:259710 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... |
ORPHA:99413 |
Turner Syndrome |
|
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... |
ORPHA:881 |
Mosaic Monosomy X |
|
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... |
ORPHA:99228 |
Monosomy X |
|
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... |
ORPHA:99226 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Small placenta, Short 5th finger, Clinodactyly of the 5th finger, Oligohydramnios, S... |
ORPHA:397590 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Optic nerve hypoplasia, Increased circulating farnesol concentration, Knee f... |
OMIM:618156 |
Noonan Syndrome 1 |
|
Shield chest, Superior pectus carinatum, Abnormal sternum morphology, Cubitus valgus, Patent duct... |
OMIM:163950 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... |
OMIM:217085 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descend... |
ORPHA:99050 |
Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... |
OMIM:166600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:607765 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the radius, Patent ductus arteriosus, Finger syndactyl... |
ORPHA:392 |
Craniofacial Microsomia |
|
Limbal dermoid, Ventricular septal defect, Upper eyelid coloboma, Agenesis of corpus callosum, Co... |
OMIM:164210 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... |
OMIM:144750 |
Feingold Syndrome Type 1 |
|
Interrupted aortic arch, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Tric... |
ORPHA:391641 |
Isolated Right Ventricular Hypoplasia |
|
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... |
ORPHA:439 |
Pallister-Hall Syndrome |
|
Neonatal death, Short nose, Distal shortening of limbs, Patent ductus arteriosus, Adrenal hypopla... |
OMIM:146510 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Trichiasis, Meningioma, Cardiac conduction abnormality, Patent ductus arte... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Trichiasis, Meningioma, Cardiac conduction abnormality, Patent ductus arte... |
ORPHA:353277 |
Trichohepatoenteric Syndrome 1 |
|
Brittle hair, Woolly hair, Anteverted nares, Abnormalities of placenta or umbilical cord, Sparse ... |
OMIM:222470 |
Holoprosencephaly |
|
Iris coloboma, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the corpus callosum, ... |
ORPHA:2162 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... |
ORPHA:99094 |
17Q11 Microdeletion Syndrome |
|
Plexiform neurofibroma, Leukemia, Optic nerve glioma, Brain neoplasm, Cerebellar glioma, Brainste... |
ORPHA:97685 |
Meacham Syndrome |
|
Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Situs inversus totalis,... |
ORPHA:3097 |
Mungan Syndrome |
|
Bilateral ptosis, Perimembranous ventricular septal defect, Abnormality of the autonomic nervous ... |
OMIM:611376 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Short nose, Proximal placement of thumb, Patent ductus arteriosus, Pulmonar... |
ORPHA:251071 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Hemangioma, Edema, Abnormal tricuspid valve morphology, Patent ductus arte... |
ORPHA:90308 |
Chylomicron Retention Disease |
|
Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy |
ORPHA:71 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Hallux valgus, Retinal coloboma, Telecanthus, Patent ductus arteriosus, Ir... |
ORPHA:261552 |
Carpenter Syndrome 1 |
|
Genu varum, Telecanthus, Joint contracture of the hand, Patent ductus arteriosus, Deviation of fi... |
OMIM:201000 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Thoracic hypoplasia, Ventricular septal defect, Abnormal heart morphology, Coat hanger sign of ri... |
ORPHA:254534 |
Familial Exudative Vitreoretinopathy |
|
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... |
ORPHA:891 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormali... |
ORPHA:1166 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Missing ribs, D... |
OMIM:220210 |
Esophageal Atresia |
|
Ventricular septal defect, Maternal diabetes, Absence of stomach bubble on fetal sonography, Gast... |
ORPHA:1199 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Meningioma, Cardiac conduction abnormality, Patent ductus arteriosus, Low ... |
ORPHA:353281 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pancreatic hypoplasia, Biliary hyperplasia, Contracture of the distal interphalangeal joint of th... |
ORPHA:83617 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... |
ORPHA:2516 |
Hyperlipidemia, Familial Combined, 3 |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Thoracic hypoplasia, Narrow palpebral fissure, Pectus excavatum, Depressed nasal bridge, Macroglo... |
ORPHA:254528 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Hallux valgus, Short metatarsal, Cubitus valgus, Low posterior hairline, S... |
ORPHA:1772 |
Floating-Harbor Syndrome |
|
Prominent nose, Hirsutism, Persistent left superior vena cava, Coarctation of aorta, Mesocardia, ... |
OMIM:136140 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Talipes equinovarus, Arterial rupture, Hip subluxation, Vascular dilatation, Thoracic scoliosis, ... |
ORPHA:1900 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Optic atrophy, Acanthocytosis, Elevated circulating creatine kinase concentration, Hypocholestero... |
ORPHA:96180 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of the anterior pituitary, Upslant... |
ORPHA:75389 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Hallux valgus, Retinal coloboma, Telecanthus, Delayed eruption of teeth, I... |
ORPHA:261537 |
Cardiomyopathy, Dilated, 2D |
|
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:619371 |
Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Anemia, Aplasia/Hypoplasia of the iris, Patent ductus ar... |
ORPHA:290 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Metopic synostosis, Ptosis, Coarctation of aorta, Hypoplastic left hea... |
OMIM:618748 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Mitral regurgi... |
OMIM:603387 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypertension, Peripheral pulmonary artery stenosis, Long... |
ORPHA:52 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia/Hypoplasia o... |
ORPHA:84 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal cranial nerve morphology, Abnormal vertebral segmentation and... |
ORPHA:2345 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Floating-Harbor Syndrome |
|
Shield chest, Low hanging columella, 11 pairs of ribs, Long nose, Atrial septal defect, Enlarged ... |
ORPHA:2044 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Heterotaxy, Visceral, 5, Autosomal |
|
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Abdominal situs invers... |
OMIM:270100 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Ventricular septal defect, Truncus arteriosus, Abnormal h... |
ORPHA:401935 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Splenomegaly, Short palpebral fissure, Diastasis recti, Anteverted nare... |
OMIM:608149 |
Trisomy 13 |
|
Optic atrophy, Ventricular septal defect, Capillary hemangioma, Aplasia/Hypoplasia of the iris, P... |
ORPHA:3378 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Bifid sternum, Supraumbilical raphe, Right aortic arch, Cavernous hemangiom... |
OMIM:140850 |
Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Congenital pseudoarthrosis of the clavicle, Hydropic placenta, Pate... |
OMIM:275210 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hirsutism, Talipes equinovarus, Telecanthus, Abnormal left ventricular function, Ventricular sept... |
OMIM:301056 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Hallux valgus, Retinal coloboma, Telecanthus, Patent ductus arteriosus, Ir... |
ORPHA:2152 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Anteverted nares, Sparse and thin eyebrow, Nephroblastoma, Umbilical hernia, S... |
ORPHA:1001 |
Osteogenesis Imperfecta, Type Xiii |
|
Joint hypermobility, Osteoporosis, Increased bone mineral density |
OMIM:614856 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... |
ORPHA:99125 |
Buschke-Ollendorff Syndrome |
|
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... |
ORPHA:1306 |
3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Proximal placement of thumb, Patent ductus arteriosus... |
ORPHA:435638 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Clubbing, Split hand, ... |
OMIM:600460 |
Majeed Syndrome |
|
Leukocytosis, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anemia, Increased ... |
ORPHA:77297 |
Autosomal Dominant Cutis Laxa |
|
Developmental cataract, Adducted thumb, Peripheral pulmonary artery stenosis, Ptosis, Mitral regu... |
ORPHA:90348 |
Kabuki Syndrome 1 |
|
Hirsutism, Prominent eyelashes, Sparse and thin eyebrow, Hemolytic anemia, Prominent fingertip pa... |
OMIM:147920 |
Renpenning Syndrome |
|
Prominent nose, Pectus excavatum, Skeletal muscle atrophy, Thin eyebrow, Upslanted palpebral fiss... |
ORPHA:3242 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Thickened cortex of long bones, Anemia, Papilledema, Increased bone minera... |
OMIM:127000 |
Chromosome 18Q Deletion Syndrome |
|
Talipes equinovarus, Decreased response to growth hormone stimulation test, Proximal placement of... |
OMIM:601808 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypopigmentation of the fundus, Retinal detachment, Increased bone mineral density, Abnormal bone... |
ORPHA:163649 |
Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... |
OMIM:133780 |
Kagami-Ogata Syndrome |
|
Thoracic hypoplasia, Coxa valga, Depressed nasal bridge, Premature birth, Coat hanger sign of rib... |
ORPHA:254519 |
Arterial Tortuosity Syndrome |
|
Hypertension, Pectus excavatum, Convex nasal ridge, Pectus carinatum, Ischemic stroke, Ventricula... |
OMIM:208050 |
Pallister-Killian Syndrome |
|
Sparse eyelashes, Short nose, Telecanthus, Patent ductus arteriosus, Delayed eruption of teeth, 1... |
OMIM:601803 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Keutel Syndrome |
|
Optic atrophy, Ventricular septal defect, Underdeveloped nasal alae, Depressed nasal bridge, Wide... |
ORPHA:85202 |
Aorto-Ventricular Tunnel |
|
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... |
ORPHA:3400 |
Dysosteosclerosis |
|
Optic atrophy, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mi... |
ORPHA:1782 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased bone ... |
ORPHA:77259 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Optic disc pallor, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirub... |
OMIM:259720 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... |
ORPHA:94089 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Wi... |
ORPHA:93267 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Acanthocytosis, Dec... |
ORPHA:14 |
Fryns Syndrome |
|
Abnormal aortic morphology, Aganglionic megacolon, Abnormal aortic arch morphology, Congenital di... |
ORPHA:2059 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... |
OMIM:132900 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hypocholesterolemia, Rod-cone dystrophy, Osteopenia, Flexion contracture, Hypoalb... |
OMIM:212065 |
Johnson Neuroectodermal Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Alopecia, Absent eyebrow, Facial palsy,... |
OMIM:147770 |
Apolipoprotein C-Ii Deficiency |
|
Lipemia retinalis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulatin... |
OMIM:207750 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, A... |
ORPHA:1908 |
Tetrasomy 9P |
|
Large beaked nose, Talipes equinovarus, Raynaud phenomenon, Bulbous nose, Polymicrogyria, Hydroce... |
ORPHA:3310 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... |
ORPHA:90650 |
Cartilage-Hair Hypoplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Neutropenia, Short t... |
ORPHA:175 |
Schimke Immunoosseous Dysplasia |
|
Fine hair, Abnormal T cell morphology, Opacification of the corneal stroma, Hypertension, Depress... |
OMIM:242900 |
Pagod Syndrome |
|
Meningocele, Optic atrophy, Abnormal aortic morphology, Abnormality of the spleen, Situs inversus... |
ORPHA:991 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Umbilical hernia, Hypertension, Abnorm... |
ORPHA:217093 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Optic neuropathy, Hyperoxaluria, Choroidal neovascularization, Retinal crystals, P... |
OMIM:259900 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Depressed nasal bridge, Diaphyseal thickening, Wide nasal bridge, Abnormal rib mor... |
ORPHA:1513 |
Dextrocardia |
|
Dextrocardia, Abnormality of the spleen, Neuroblastoma, Pancreatic hypoplasia, Situs inversus tot... |
ORPHA:1666 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Aganglionic megacolon, Tapered finger, Short nose, Promi... |
OMIM:613870 |
Familial Aortic Dissection |
|
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... |
ORPHA:229 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
Abetalipoproteinemia |
|
Acanthocytosis, Retinal degeneration, Retinopathy, Abetalipoproteinemia |
OMIM:200100 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... |
OMIM:610338 |
Idiopathic Congenital Hypothyroidism |
|
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Decreased... |
ORPHA:95717 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short nose, Telecanthus, Short ribs, Anteverted nares, Short femur, Hydrops fetalis, Hypertrophic... |
OMIM:616897 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal sternum morphology, Symphalangism ... |
ORPHA:2990 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Microcephaly |
ORPHA:2435 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
Mosaic Trisomy 9 |
|
Talipes equinovarus, Patent ductus arteriosus, Bulbous nose, Camptodactyly of finger, Finger clin... |
ORPHA:99776 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Coloboma, Underdeveloped nasal alae, Ventricular septal defect, Atrial sep... |
ORPHA:453499 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Upslanted palpebral fissure, Abnormal clavicle morphology, Abnormal rib morphology, Tetralogy of ... |
ORPHA:276422 |
De Barsy Syndrome |
|
Talipes equinovarus, Patent ductus arteriosus, Delayed eruption of teeth, Sparse hair, Umbilical ... |
ORPHA:2962 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Facial telangiectasia, Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Patent ductus arter... |
OMIM:602782 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Pectus excavatum, Mitral valve prolapse, Atrial fibrillation, Pectus carinatum, Arachnodactyly, A... |
OMIM:616166 |
Autosomal Recessive Robinow Syndrome |
|
Broad hallux phalanx, Short nose, Finger syndactyly, Camptodactyly of finger, Anteverted nares, U... |
ORPHA:1507 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Atelosteogenesis, Type I |
|
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short nose, 11 pair... |
OMIM:108720 |
Trisomy 1Q |
|
Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic herni... |
ORPHA:261344 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Congenital hypothyroidism, Abnormal sternum morphology, Pulmonary arte... |
ORPHA:2519 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal prolactin level, Anterior pituitary hypoplasia, Abnormality of secondary sexual hair, De... |
ORPHA:95494 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Anemi... |
ORPHA:3405 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, 2-3 toe syndactyly, Finger syndactyly, Cerebral atrophy, Anteverted nare... |
ORPHA:464738 |
Charge Syndrome |
|
Patent ductus arteriosus, Iris coloboma, Delayed eruption of teeth, Anterior hypopituitarism, Cho... |
ORPHA:138 |
Osteopetrosis, Autosomal Recessive 3 |
|
Optic nerve compression, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extrame... |
OMIM:259730 |
Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Distal arthrogryposis, Hip contracture, Talipes equinovarus, Aortic root a... |
OMIM:121050 |
Giant Axonal Neuropathy |
|
Diffuse axonal swelling, Talipes equinovarus, Limb muscle weakness, Facial palsy, Abnormality of ... |
ORPHA:643 |
22Q11.2 Deletion Syndrome |
|
Arrhinencephaly, Truncus arteriosus, Talipes equinovarus, Hypoplasia of the thymus, Telecanthus, ... |
ORPHA:567 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic nipples, Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, Patent ductus... |
OMIM:269860 |
Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Coarctation of aorta, Abnormal left ve... |
ORPHA:402075 |
Weill-Marchesani Syndrome 2 |
|
Short metatarsal, Patent ductus arteriosus, Aortic valve stenosis, Umbilical hernia, Elbow flexio... |
OMIM:608328 |
Smith-Lemli-Opitz Syndrome |
|
2-3 toe syndactyly, Aplasia/Hypoplasia of the radius, Proximal placement of thumb, Patent ductus ... |
ORPHA:818 |
Atelosteogenesis Type Ii |
|
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Telecanthus, Short ribs... |
ORPHA:56304 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Slc35A2-Cdg |
|
Talipes equinovarus, Elevated circulating thyroid-stimulating hormone concentration, Short corpus... |
ORPHA:356961 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Ectopia cordis, Lens subluxation, Iris coloboma, Diastasis recti, Hy... |
ORPHA:2369 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... |
ORPHA:93284 |
Diastrophic Dysplasia |
|
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger |
ORPHA:628 |
Duane-Radial Ray Syndrome |
|
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Vascu... |
OMIM:607323 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hyperph... |
ORPHA:36913 |
Mosaic Trisomy 14 |
|
Ptosis, Prominent nasal bridge, Wide nasal bridge, Narrow chest, Abnormal rib morphology, Camptod... |
ORPHA:1703 |
Giant Cell Arteritis |
|
Optic atrophy, Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Mediastinal lymphadeno... |
ORPHA:397 |
Cinca Syndrome |
|
Leukocytosis, Anemia, Arthritis, Papilledema, Hepatosplenomegaly, Eosinophilia, Elevated circulat... |
OMIM:607115 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Rib segmentation abnormalit... |
ORPHA:2311 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Single umbilical artery, Hypoplastic left heart, Abnormal rib morpholo... |
ORPHA:2772 |
Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Broad hallux phalanx, Curly eyelashes, Patent ductus arteriosus, Finger syndactyly, Anteverted na... |
ORPHA:1517 |
Achondrogenesis Type 1B |
|
Talipes equinovarus, Short nose, Short thorax, Polyhydramnios, Thickened nuchal skin fold, Short ... |
ORPHA:93298 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Abnormal sternum... |
ORPHA:91387 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Umbilical hernia, Hypertension, Abnorm... |
ORPHA:217085 |
Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hypoplasia of th... |
OMIM:613001 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Talipes equinovarus, Telecanthus, Joint contracture of the hand, Genu recurvatum, Hydrocephalus, ... |
OMIM:182212 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... |
OMIM:208530 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Vertebral fusion, Hypothalamic hamartoma, Optic nerve hypoplasia, Hypo... |
OMIM:206900 |
Mucopolysaccharidosis Type 2 |
|
Splenomegaly, Umbilical hernia, Hypertension, Abnormal aortic morphology, Abnormal tricuspid valv... |
ORPHA:580 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neutropenia, Peripheral pulmonary artery stenosis, Mitral stenosis, Patent ductus arteriosus, Low... |
ORPHA:163956 |
Cranioectodermal Dysplasia 2 |
|
Cholangitis, Sparse eyelashes, Portal fibrosis, Telecanthus, Short ribs, Patent ductus arteriosus... |
OMIM:613610 |
Hurler Syndrome |
|
Splenomegaly, Hydrocephalus, Camptodactyly of finger, Anteverted nares, Abnormal nerve conduction... |
ORPHA:93473 |
Jacobsen Syndrome |
|
Short nose, Telecanthus, Nasolacrimal duct obstruction, Iris coloboma, Hydrocephalus, Anteverted ... |
OMIM:147791 |
Carey-Fineman-Ziter Syndrome |
|
Myopathy, Skeletal muscle atrophy, Laryngeal stenosis, Talipes equinovarus, Ptosis, Ulnar deviati... |
ORPHA:1358 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Depressed nasal ridge, Broad hallux phalanx, Ptosis, Broad thumb, Dow... |
ORPHA:2211 |
Marcus-Gunn Syndrome |
|
Abnormal heart morphology, Unilateral ptosis, Abnormal fifth cranial nerve morphology, Coloboma, ... |
ORPHA:91412 |
Prune Belly Syndrome |
|
Ventricular septal defect, Pectus excavatum, Talipes equinovarus, Congenital hip dislocation, Pat... |
ORPHA:2970 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... |
ORPHA:85188 |
Familial Thyroid Dyshormonogenesis |
|
Depressed nasal bridge, Congenital hypothyroidism, Goiter, Delayed proximal femoral epiphyseal os... |
ORPHA:95716 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
2-3 toe syndactyly, Bilateral ptosis, Capillary hemangioma, Patent ductus arteriosus, Toe clinoda... |
ORPHA:163979 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Short palpebral fis... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Short palpebral fis... |
ORPHA:363958 |
Stuve-Wiedemann Syndrome 1 |
|
Metaphyseal rarefaction, Short nose, Short palpebral fissure, Femoral bowing, Contracture of the ... |
OMIM:601559 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Hypoplasia of the thymus, Patent ductus arteriosus, Splenomegaly, Erythroid hypoplas... |
OMIM:612541 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... |
OMIM:210250 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Trisomy 18 |
|
Short nose, Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum, Campto... |
ORPHA:3380 |
Ogden Syndrome |
|
Palpebral thickening, Broad hallux, Cerebral atrophy, Pulmonary artery stenosis, Sparse and thin ... |
OMIM:300855 |
Beckwith-Wiedemann Syndrome |
|
Splenomegaly, Diastasis recti, Facial hemangioma, Large placenta, Umbilical hernia, Nephroblastom... |
ORPHA:116 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... |
ORPHA:289176 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Optic nerve compression, Anemia, Diaphyseal sclerosis... |
OMIM:131300 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Talipes equinovarus, Abnormal heart morphology, Long fingers, Abnormal corpus ... |
OMIM:618343 |
Familial Multiple Nevi Flammei |
|
Abnormal cranial nerve morphology, Intracranial hemorrhage, Edema, Venous insufficiency, Pulmonar... |
ORPHA:624 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Pectus excavatum, Downslanted palpebral fissures, Optic disc coloboma,... |
ORPHA:52055 |
Omodysplasia 1 |
|
Limited elbow flexion, Short nose, Increased fibular diameter, Limited elbow extension, Short hum... |
OMIM:258315 |
White Forelock With Malformations |
|
Epicanthus, Finger syndactyly, White forelock, Sprengel anomaly, Atrial septal defect, Abnormal r... |
ORPHA:2475 |
Basal Cell Nevus Syndrome |
|
Abnormal sternum morphology, Basal cell carcinoma, Short ribs, Iris coloboma, Hydrocephalus, Shor... |
OMIM:109400 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Triphalangeal thumb, Hypoplasia of first ribs, Talipes equinovarus, Aplasia/Hypopl... |
OMIM:154400 |
Simpson-Golabi-Behmel Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Talipes equinovarus, Short nose, Splenomega... |
ORPHA:373 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Ocular albinism, Patent ductus arteriosus, Foot polydactyly, 11 pairs of ... |
ORPHA:1606 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular matrix accumulation... |
OMIM:130090 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Opacification of the corneal stroma, Hirsutism, Depressed nasal bridge, Macroglossi... |
OMIM:253200 |
Greenberg Dysplasia |
|
Neonatal death, Short ribs, 11 pairs of ribs, Hepatosplenomegaly, Abnormal ossification involving... |
OMIM:215140 |
Oculocerebrocutaneous Syndrome |
|
Ptosis, Congenital diaphragmatic hernia, Alopecia, Missing ribs, Congenital hip dislocation, Iris... |
ORPHA:1647 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... |
ORPHA:2255 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Dextrocardia, Myelomeningocele, Vertebral fusion, Block vertebrae, Situs inversus totalis, Missin... |
OMIM:613686 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Ventricular septal defect, Broad nasal tip, C1-C2 subluxation, Short dista... |
ORPHA:79345 |
Arterial Tortuosity Syndrome |
|
Dilated cardiomyopathy, Myocarditis, Aortic root aneurysm, Short nose, Short palpebral fissure, V... |
ORPHA:3342 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... |
ORPHA:3384 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Splenomegaly, Anterior pituitary h... |
OMIM:619534 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, 2-3 toe syndactyly, Talipes equinovarus, Patent ductus arteriosus, Iris co... |
OMIM:300166 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Sparse eyelashes, Prominent superficial veins, Sparse and thin eyebrow, ... |
OMIM:614008 |
Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Shield chest, Small hand, Downslanted palpebr... |
OMIM:300712 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Sparse eyelashes, Talipes equinovarus, Short nose, Patent ductus arteriosus, Low posterior hairli... |
OMIM:213980 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Aortic dissection, Ascending tubular aorta aneurysm, Mitral valve prolapse... |
OMIM:614816 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Abnormal aortic morphology, Upslanted palpebral fissure, Patent ductus arteriosus, Hypoplastic le... |
ORPHA:2001 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Lymphadenopathy, Dacryocystitis, Abnormal fifth cranial nerve morphology, Nasolacrim... |
ORPHA:449563 |
Monosomy 9Q22.3 |
|
Pectus excavatum, Odontogenic keratocysts of the jaw, Metopic synostosis, Rhabdomyosarcoma, Polyd... |
ORPHA:77301 |
Metatropic Dysplasia |
|
Long thorax, Depressed nasal bridge, Abnormality of the metaphysis, Coarse metaphyseal trabecular... |
ORPHA:2635 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Underdeveloped nasal alae, Ventricular septal defect, Narrow palpebral f... |
OMIM:192430 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Camptodactyly of finger, Choanal atresia, Highly arched eyebrow, Ventricular ... |
ORPHA:261330 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Iris coloboma, Low hanging columella, Delayed eruption of teeth, Pulmon... |
OMIM:235730 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Jeune Syndrome |
|
Toe syndactyly, Abnormal sternum morphology, Abnormal clavicle morphology, Short thorax, Abnormal... |
ORPHA:474 |
Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Cherry red spot of the macula, Anemia, Abn... |
ORPHA:355 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of t... |
ORPHA:1488 |
Proteus-Like Syndrome |
|
Limbal dermoid, Communicating hydrocephalus, Thymus hyperplasia, Hemangioma, Polycystic ovaries, ... |
ORPHA:2969 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Talipes equinovarus, Coloboma, Supernumerary nipple, Underdeveloped nasal ... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Talipes equinovarus, Coloboma, Supernumerary nipple, Underdeveloped nasal ... |
ORPHA:352665 |
Osteopathia Striata With Cranial Sclerosis |
|
Talipes equinovarus, Joint contracture of the hand, Patent ductus arteriosus, Hydrocephalus, Camp... |
OMIM:300373 |
Gm1-Gangliosidosis, Type I |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Depressed nasal ridge, Hypertr... |
OMIM:230500 |
Schwartz-Jampel Syndrome |
|
Odontogenic neoplasm, Long eyelashes in irregular rows, Hip contracture, Skeletal muscle hypertro... |
ORPHA:800 |
Short Rib-Polydactyly Syndrome |
|
Short ribs, Syndactyly, Flat acetabular roof, Short tibia, Depressed nasal bridge, Hepatic fibros... |
ORPHA:1505 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic root aneurysm, Leukoencephalopathy, Patent ... |
OMIM:607872 |
Tricho-Dento-Osseous Syndrome |
|
Periapical tooth abscess, Increased bone mineral density |
ORPHA:3352 |
Larsen Syndrome |
|
Short nail, Talipes equinovarus, Short metatarsal, Spatulate thumbs, Bipartite calcaneus, Ventric... |
OMIM:150250 |
Familial Cerebral Saccular Aneurysm |
|
Aortic dissection, Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, C... |
ORPHA:231160 |
Fibrochondrogenesis 1 |
|
Short nose, Joint contracture of the hand, Short ribs, Megalocornea, Camptodactyly, Anteverted na... |
OMIM:228520 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Upslanted palpebral fissure, Posterior rib fusion, Short thorax, Wide nasal bridge, Missing ribs,... |
ORPHA:1797 |
Dysosteosclerosis |
|
Optic atrophy, Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone,... |
OMIM:224300 |
Homozygous Familial Hypercholesterolemia |
|
Coronary artery aneurysm, Myocardial steatosis, Premature coronary artery atherosclerosis, Abnorm... |
ORPHA:391665 |
Poland Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... |
ORPHA:2911 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aortic root aneurysm, Short nose, Patent ductus arteriosus, Hypoplasia of proximal radius, Hip su... |
ORPHA:444077 |
Tangier Disease |
|
Hypocholesterolemia, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia |
ORPHA:31150 |
Marfan Syndrome |
|
Mitral valve calcification, Lens subluxation, Aortic tortuosity, Protrusio acetabuli, Limited elb... |
ORPHA:558 |
Fraser Syndrome 1 |
|
Cutaneous finger syndactyly, Extension of hair growth on temples to lateral eyebrow, Aplasia/Hypo... |
OMIM:219000 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Osteopenia |
ORPHA:85184 |
Rubinstein-Taybi Syndrome 1 |
|
Hirsutism, Radial deviation of thumb terminal phalanx, Leukemia, Capillary hemangioma, Patent duc... |
OMIM:180849 |
Atelosteogenesis Type I |
|
Abnormal pancreatic duct morphology, Thoracic hypoplasia, Laryngeal stenosis, Laryngotracheal ste... |
ORPHA:1190 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosp... |
OMIM:238600 |
Yunis-Varon Syndrome |
|
Arrhinencephaly, Sparse eyelashes, Short middle phalanx of finger, Short ribs, Syndactyly, Hydroc... |
ORPHA:3472 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... |
OMIM:601376 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Optic nerve compression, Pulmonary artery stenosis, Chronic rhinitis, Lymphadenopat... |
ORPHA:667 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Pectus carinatum, Ptosis, Hypogonadotr... |
ORPHA:3068 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Osteopetrosis, Hypocalcemia |
OMIM:618476 |
Aicardi Syndrome |
|
Dilated third ventricle, Proximal placement of thumb, Polymicrogyria, Block vertebrae, Anteverted... |
OMIM:304050 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Nasolacrimal duct obstruction, Proboscis, Iris coloboma, Cyclopia, Choa... |
|