Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Thickened nuchal skin fold, Pulmonic steno... |
OMIM:618164 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Joint dislocation, Talipes equinovarus, Ulnar deviation of the 2n... |
OMIM:616145 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrocele testis, Atrial septal defect, Upslanted palpebral fissure, Broad nasal tip, Oligohydram... |
OMIM:601927 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... |
ORPHA:860 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
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Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Cryptorchidism, Pulmonic... |
ORPHA:3304 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Talipes equinovarus, At... |
ORPHA:477817 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bulbous nose, Bicuspid aortic valve, Short palpebral fissure, Pulmonic stenosis, Depressed nasal ... |
ORPHA:284169 |
Van Buchem Disease |
|
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... |
OMIM:239100 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... |
OMIM:241520 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Abnormal hand morphology, Ventricular septal defect, Type I diabetes mellitu... |
ORPHA:371428 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, A... |
OMIM:615558 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Transaldolase Deficiency |
|
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation... |
ORPHA:101028 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency, Broad phalanx, Pectus excavatum, Hypertrichosis, Atrioventricu... |
ORPHA:508498 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Delayed femoral head ossification, Limited hip movement, ... |
ORPHA:168621 |
Phaver Syndrome |
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Myelomeningocele, Depressed nasal bridge, Broad hallux phalanx, Camptodactyly of finger, Coarctat... |
ORPHA:2876 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... |
OMIM:614300 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Craniofaciofrontodigital Syndrome |
|
Hypertrichosis, Stroke, Anomalous branches of internal carotid artery, Finger joint hypermobility... |
ORPHA:363705 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Narrow chest, Thoracic scoliosis, Talipes equinovarus, Adducted thumb, Hypoplasia of... |
OMIM:617022 |
Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Low anterior ha... |
OMIM:301022 |
Mosaic Trisomy 1 |
|
Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, He... |
ORPHA:1692 |
16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, T... |
ORPHA:261243 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... |
OMIM:606003 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Clinodactyly of the 5th finger, Pectus excavatum, Prominent sternum, Pulmonic stenosis... |
OMIM:617877 |
Flynn-Aird Syndrome |
|
Joint stiffness, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Increased bone... |
OMIM:136300 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Coarctation of aorta, Ethmoidal encephalocele, Abno... |
ORPHA:280195 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cryptorchidism, Talipes equinovarus, Oligohydramnios, Neo... |
OMIM:608104 |
Lowry-Maclean Syndrome |
|
Widely patent coronal suture, Hydrocephalus, Corneal opacity, Convex nasal ridge, Congenital diap... |
ORPHA:2409 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
2-3 toe syndactyly, Short 2nd finger, Atrial septal defect, Secundum atrial septal defect, Sparse... |
OMIM:600987 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Sprengel anomaly, Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal defect, D... |
OMIM:618929 |
Peroxisome Biogenesis Disorder 3B |
|
Rod-cone dystrophy, Steatorrhea, Osteoporosis, Retinal dystrophy, Hypocholesterolemia |
OMIM:266510 |
Rubinstein-Taybi Syndrome 1 |
|
Pectus excavatum, Prominent fingertip pads, Premature thelarche, Facial hypertrichosis, Broad hal... |
OMIM:180849 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bulbous nose, Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... |
OMIM:612474 |
Noonan Syndrome 2 |
|
Pectus excavatum, Sparse eyebrow, Atrioventricular canal defect, Pectus carinatum, Ventricular se... |
OMIM:605275 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Coarctation of aorta, Epicanthus, Long eyelashes, Patent ductus arteriosus,... |
OMIM:615502 |
Fg Syndrome Type 1 |
|
Hydrocephalus, Craniosynostosis, Limited elbow extension and supination, Downslanted palpebral fi... |
ORPHA:93932 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Chylomicron Retention Disease |
|
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Sclerosteosis |
|
Optic atrophy, Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hy... |
ORPHA:3152 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Noonan Syndrome 10 |
|
Pectus excavatum, Sparse eyebrow, Pectus carinatum, Ventricular septal defect, Downslanted palpeb... |
OMIM:616564 |
Sotos Syndrome |
|
Atrial septal defect, Sparse eyebrow, Enlarged naris, Muscular ventricular septal defect, Broad n... |
OMIM:117550 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Supernumerary n... |
OMIM:618454 |
Sandestig-Stefanova Syndrome |
|
Convex nasal ridge, Muscular ventricular septal defect, Prominent metopic ridge, Sparse medial ey... |
OMIM:618804 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Asymmetry of the thorax, Delayed cranial suture closure, Facial palsy, Del... |
ORPHA:2780 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Facial hemangioma, Congeni... |
OMIM:606519 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Atrial septal defect, Coarctation of aorta, Bell-shaped thorax, Pulmonary arterial hypertension, ... |
OMIM:614857 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Cryptorchidism, Holop... |
OMIM:264480 |
Jacobsen Syndrome |
|
Microcornea, Ventricular septal defect, Downslanted palpebral fissures, Short nose, Cataract, Bon... |
ORPHA:2308 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Short palpebral fissure, Upslanted palpebral fissure, Hypo... |
OMIM:617159 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increased variability in... |
OMIM:619178 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
Apert Syndrome |
|
Hydrocephalus, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Shallow orbits, De... |
OMIM:101200 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Bulbous nose, Clinodactyly of the 5th finger, Atrial septal defect, Decreased response to growth ... |
OMIM:614114 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Downslanted p... |
OMIM:616559 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Pectus excavatum, Sparse hair, Craniosynostosis, Coarse hair, Pectus carinatum, Ventricular septa... |
OMIM:617506 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... |
OMIM:231095 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Abnormality of cartilage of external ear, Hypo... |
ORPHA:3426 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Dysplastic corpus callosum, Atrial septal defect, Low hanging columella, Muscula... |
ORPHA:363444 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Convex nasal ridge, Genu varum, Downslanted palpebral fissures, Abnor... |
ORPHA:1110 |
Kaufman Oculocerebrofacial Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Sparse hair, Sparse eyebrow, Upslanted palp... |
OMIM:244450 |
Phace Syndrome |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Cataract, Aortic root ane... |
ORPHA:42775 |
Atrial Septal Defect 4 |
|
Patent foramen ovale, Atrial septal defect, Coarctation of aorta |
OMIM:611363 |
Chromosome 9P Deletion Syndrome |
|
Clinodactyly of the 4th toe, Depressed nasal bridge, Hemangioma, Tapered finger, Heart murmur, Ve... |
OMIM:158170 |
Restrictive Dermopathy |
|
Multiple joint contractures, Sparse hair, Sparse eyebrow, Short nail, Sparse or absent eyelashes,... |
ORPHA:1662 |
Ogden Syndrome |
|
Hydrocele testis, Pectus excavatum, Sparse eyebrow, Depressed nasal bridge, Depressed nasal tip, ... |
OMIM:300855 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... |
OMIM:115197 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofacial osteosclerosis... |
OMIM:122860 |
Charge Syndrome |
|
Down-sloping shoulders, Hypoplasia of the ulna, Ventricular septal defect, Downslanted palpebral ... |
OMIM:214800 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Alg3-Cdg |
|
Decreased liver function, Abnormality of the endocrine system, Macroglossia, Coarctation of the d... |
ORPHA:79321 |
Alg12-Cdg |
|
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Clinodactyly of the 5th finger... |
ORPHA:79324 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Mosaic Trisomy 16 |
|
Abnormal heart morphology, Single coronary artery origin, Atrial septal defect, Single umbilical ... |
ORPHA:1708 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Coarctation of aorta, Macular coloboma, Facial palsy, Interrupted aortic arch |
OMIM:107550 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... |
ORPHA:99095 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610947 |
Acrocardiofacial Syndrome |
|
Mitral stenosis, Joint dislocation, Finger syndactyly, Hyperthyroidism, Split foot, Atrial septal... |
ORPHA:2008 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Coarctation of aorta, Hypothyroidism, Polyhydramnios, Ventricul... |
ORPHA:1923 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Slender finger, Muscular ventricular septal defect, Depressed nasal bridge, Delayed eruption of t... |
OMIM:619503 |
Kabuki Syndrome 2 |
|
Hirsutism, Atrial septal defect, Prominent fingertip pads, Atrioventricular canal defect, Pulmoni... |
OMIM:300867 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pectus excavatum, Atrial septal defect, Congenital diaphragmatic hernia, Arachnodactyly, Long nos... |
OMIM:617602 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Mosaic Variegated Aneuploidy Syndrome |
|
Depressed nasal ridge, Stomach cancer, Downslanted palpebral fissures, Intestinal polyposis, Cata... |
ORPHA:1052 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Anencephaly, Malformation of the hepatic ducta... |
OMIM:249000 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Sudden cardiac death, Elevat... |
OMIM:614921 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Multilobulated spleen, Pulmonic stenosis, ... |
OMIM:601186 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Bulbous nose, Stroke, Band keratopathy, Hepatic failure, Long ... |
OMIM:118450 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital hip dislo... |
OMIM:306955 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Mitral stenosis, Talipes equinovarus, Decreased response to growth hormone stimulation test, Low ... |
OMIM:617260 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... |
ORPHA:566943 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... |
OMIM:618782 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Abnormality of the humerus, Tet... |
ORPHA:3186 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Blackfan-Diamond Anemia |
|
Absent thumb, Depressed nasal bridge, Nonimmune hydrops fetalis, Ventricular septal defect, Retic... |
ORPHA:124 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... |
ORPHA:96147 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Micromelia, Small placenta, Ventricular septal defect, Cataract, Rocker bottom foot, ... |
OMIM:256520 |
Melorheostosis |
|
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... |
ORPHA:2485 |
Halperin-Birk Syndrome |
|
Talipes equinovarus, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Long ey... |
OMIM:618651 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Placental Insufficiency |
|
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... |
ORPHA:439167 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Femoral bowing, Micromelia, 11 pairs of ribs, Prolonged neonatal jaundice, Elbow ... |
OMIM:210710 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly of the 5th finger, Low anterior hairline, Delayed eruption of teeth, Small placenta,... |
ORPHA:73272 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Kleefstra Syndrome |
|
Bicuspid aortic valve, Talipes equinovarus, Supernumerary nipple, Cryptorchidism, Macroglossia, U... |
ORPHA:261494 |
Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Rhizomelia, Short nose, Cataract, Bowing of the long bones, Distal shorte... |
ORPHA:50945 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Meacham Syndrome |
|
Ventricular septal defect, Single umbilical artery, Cardiac total anomalous pulmonary venous conn... |
OMIM:608978 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Capillary hemangioma, Corneal opacity, Aortic valve stenosis, Abnormal ... |
ORPHA:2396 |
Familial Drusen |
|
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... |
ORPHA:75376 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Single umbil... |
OMIM:265380 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Opitz Gbbb Syndrome |
|
Craniosynostosis, Ventricular septal defect, Downslanted palpebral fissures, Aortic root aneurysm... |
ORPHA:2745 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Congenital diaphragmatic hernia, Hydrops fetalis, Coarctation of aorta, Bifid nose... |
ORPHA:268249 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Junctional ectopic tachycar... |
OMIM:309801 |
Oculoectodermal Syndrome |
|
Atrial septal defect, Supernumerary nipple, Depressed nasal bridge, Limbal dermoid, Coarctation o... |
OMIM:600268 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Pallister-Hall Syndrome |
|
Central adrenal insufficiency, Depressed nasal ridge, Hypothalamic hamartoma, Atrioventricular ca... |
ORPHA:672 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Prominent sternum, ... |
ORPHA:96334 |
Cardiospondylocarpofacial Syndrome |
|
Bulbous nose, Muscular ventricular septal defect, Ventricular septal defect, Carpal synostosis, R... |
OMIM:157800 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Optic atro... |
OMIM:611490 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypoplasia, Ventricular septal defect, U... |
OMIM:600001 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Myhre Syndrome |
|
Sparse hair, Ventricular septal defect, Broad ribs, Cataract, Laryngotracheal stenosis, Generaliz... |
OMIM:139210 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Diaphragmatic eventration, ... |
ORPHA:66634 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Absent thumb, Hypergonadotropic hypogonadism, Aplastic anemia, Coarctation of aort... |
OMIM:300514 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Short clavicles, Hepatomegaly, Splenomegaly, Postaxial polydactyly, Depressed nasal... |
OMIM:617088 |
Schnitzler Syndrome |
|
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia |
ORPHA:37748 |
Diamond-Blackfan Anemia 1 |
|
Absent thumb, Depressed nasal ridge, Hypoplasia of the radius, Tricuspid stenosis, 11 pairs of ri... |
OMIM:105650 |
Smith-Lemli-Opitz Syndrome |
|
Hydrocephalus, Hepatomegaly, Depressed nasal bridge, Micromelia, Hammertoe, Ventricular septal de... |
OMIM:270400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Cyst of the ductus choledochus, Atrioventricular canal defect, Broad nasal tip, Coar... |
OMIM:619480 |
Robinow Syndrome |
|
Tricuspid atresia, Broad nasal tip, Depressed nasal bridge, Ventricular septal defect, Short nose... |
ORPHA:97360 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Osteopetrosis, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Umbilical hernia, Prolonge... |
OMIM:301068 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Osteomyelitis, Increased bone mineral density, Splenomegaly, Craniosynostosis, Oste... |
OMIM:259700 |
Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Pectus excavatum, Stroke, Blue irides, Abnorm... |
ORPHA:904 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo... |
ORPHA:53 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Brachydactyly, Coarctation of aorta, Tetra... |
ORPHA:2209 |
Nicolaides-Baraitser Syndrome |
|
Enlarged joints, Bulbous nose, Hypertrichosis, Sparse hair, Sparse medial eyebrow, Dry hair, Down... |
OMIM:601358 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Pectus carinatum, Radioulnar synostosis, Abnormal ... |
ORPHA:3268 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
8Q24.3 Microdeletion Syndrome |
|
Exocrine pancreatic insufficiency, Pectus excavatum, Abnormal cricoid cartilage morphology, Atrio... |
ORPHA:508488 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Increased bone mineral density, Retinal degeneration, Hydroxyprolinemia, Ost... |
OMIM:239000 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... |
ORPHA:980 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Intrinsic hand muscle atrophy, Dysplastic corpus callosum, Low anterior hairline, Muscular ventri... |
OMIM:618569 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... |
ORPHA:392 |
15Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... |
ORPHA:261183 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
2-3 finger syndactyly, Coarctation of aorta, Postaxial hand polydactyly, Broad hallux, Hamartoma ... |
OMIM:217085 |
Fetal Akinesia Deformation Sequence 1 |
|
Hydrocephalus, Elbow ankylosis, Depressed nasal tip, Small placenta, Rocker bottom foot, Thoracic... |
OMIM:208150 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Talipes equinovarus, Macroglossia, Reduced alpha/beta synthesis ratio, Depressed nasal bridge, Hy... |
OMIM:301040 |
Greenberg Dysplasia |
|
Hepatomegaly, Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge... |
OMIM:215140 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... |
ORPHA:99050 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... |
OMIM:259710 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity, Precocious puberty, Abnormality of toe, Abnormality of finger, Alopecia, Hemangi... |
OMIM:163200 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... |
ORPHA:99413 |
Turner Syndrome |
|
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... |
ORPHA:99228 |
Monosomy X |
|
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... |
ORPHA:99226 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Rickets |
OMIM:607765 |
Ctcf-Related Neurodevelopmental Disorder |
|
Hypertrichosis, Prominent fingertip pads, Craniosynostosis, Broad nasal tip, Pulmonary hemorrhage... |
ORPHA:363611 |
Squalene Synthase Deficiency |
|
Optic nerve hypoplasia, Increased circulating farnesol concentration, Hypocholesterolemia, Decrea... |
OMIM:618156 |
Kabuki Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Precocious puberty, Ptosis, Congenital diaphra... |
ORPHA:2322 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Hypertrichosis, Pectus excavatum, Muscular ventricular septal defect, Spina bif... |
OMIM:619227 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Ectrodactyly, Clinodactyly of the 5th finger, Syndactyly, Polydactyly, Short 5th finger, Small pl... |
ORPHA:397590 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb s... |
ORPHA:1354 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Downslanted palpebral fissures, Neur... |
OMIM:163950 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Sparse hair, Depressed nasal ridge, Hepatic failure, Cholestasis, Abnormality of th... |
OMIM:222470 |
Distal Monosomy 15Q |
|
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... |
ORPHA:1596 |
Distal Trisomy 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Congestive heart failure, Atrial septal defect, Tricuspid regurgitation... |
ORPHA:439 |
Floating-Harbor Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Bulbous nose, Short 1st metacarpal, 11 pairs ... |
OMIM:136140 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Sparse scalp hair, Muscular ventricular septal defect, Adducted thumb, Brachyda... |
OMIM:620062 |
Pallister-Hall Syndrome |
|
Hypothalamic hamartoma, Decreased circulating cortisol level, Depressed nasal bridge, Midline fac... |
OMIM:146510 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Congenital diaphr... |
ORPHA:3097 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Flexion contracture, Short femur, Hypertrophic cardiomyopathy, Short humerus, Incre... |
ORPHA:17 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... |
ORPHA:99094 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hydrocele testis, Abnormal subclavian artery morphology, Broad hallux, Ventricular septal defect,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hydrocele testis, Abnormal subclavian artery morphology, Broad hallux, Ventricular septal defect,... |
ORPHA:353277 |
Chylomicron Retention Disease |
|
Retinopathy, Hypocholesterolemia, Acanthocytosis, Steatorrhea |
ORPHA:71 |
Holoprosencephaly |
|
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Ventricular septal defect, Optic atrop... |
ORPHA:2162 |
17Q11 Microdeletion Syndrome |
|
Optic nerve glioma, Telangiectasia of the skin, Stroke, Gastrointestinal stroma tumor, Elevated c... |
ORPHA:97685 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... |
OMIM:620066 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, Ventricular septal defect, ... |
ORPHA:254534 |
Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
Esophageal Atresia |
|
Barrett esophagus, Maternal diabetes, Coarctation of aorta, Absence of stomach bubble on fetal so... |
ORPHA:1199 |
Feingold Syndrome Type 1 |
|
Tricuspid atresia, Abnormal heart morphology, Clinodactyly of the 5th finger, 2-3 toe syndactyly,... |
ORPHA:391641 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Reduced bone mineral density, Peripheral ... |
ORPHA:891 |
Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Pulmonic stenosis, Abnormality of the autonomic nervo... |
OMIM:611376 |
Diabetic Embryopathy |
|
Hydrocephalus, Single umbilical artery, Aplasia/Hypoplasia of the abdominal wall musculature, Tet... |
ORPHA:1926 |
8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, Downslanted pa... |
ORPHA:251071 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... |
ORPHA:254528 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Pectus excavatum, Microcornea, Thoracic kyphoscoliosis, Aortic dissection, Hip subluxation, Limb ... |
ORPHA:1900 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Hepatomegaly, Atrial septal defect, Hemangioma, Hydrops fetalis... |
ORPHA:90308 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Decreased response to growth ... |
OMIM:220210 |
Carpenter Syndrome 1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Microcornea, Vent... |
OMIM:201000 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Broad hallux, Ventricular septal defect, Cataract, Meningioma, Patellar dislocation, Abnormal hea... |
ORPHA:353281 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Pig... |
ORPHA:96180 |
Wrinkly Skin Syndrome |
|
Premature rupture of membranes, Coxa vara, Hypoplasia of the musculature, Talipes equinovarus, Pe... |
OMIM:278250 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hydrocele testis, Pectus excavatum, Depressed nasal tip, Pulmonary artery sling, Delayed eruption... |
ORPHA:261552 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Met... |
OMIM:618748 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Brittle hair, Alopecia, Upslanted palpebral fissure, Depressed nasal bridge... |
ORPHA:75389 |
Alagille Syndrome |
|
Short distal phalanx of finger, Telangiectasia of the skin, Peripheral pulmonary artery stenosis,... |
ORPHA:52 |
Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ve... |
ORPHA:2345 |
Restrictive Dermopathy 1 |
|
Sparse eyebrow, Short nail, Depressed nasal bridge, Spontaneous chorioamniotic separation, Rocker... |
OMIM:275210 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Pectus excavatum, Streak ovary, Bilateral cryptorchidism, Prolonged QT interval, Decreased serum ... |
ORPHA:1772 |
Floating-Harbor Syndrome |
|
Enlarged joints, Broad nasal tip, Long nose, 11 pairs of ribs, Broad fingertip, Humeral pseudarth... |
ORPHA:2044 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... |
ORPHA:1166 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Brachydactyly, Wide nasal bridge, Short thumb, Limi... |
ORPHA:401935 |
Kagami-Ogata Syndrome |
|
Hepatomegaly, Depressed nasal bridge, Ventricular septal defect, Diastasis recti, Short palpebral... |
OMIM:608149 |
Fanconi Anemia |
|
Abnormality of femur morphology, Arteriovenous malformation, Hydrocephalus, Absent testis, Abnorm... |
ORPHA:84 |
Exudative Vitreoretinopathy 1 |
|
Recurrent fractures, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachm... |
OMIM:133780 |
Trisomy 13 |
|
Narrow chest, Ectrodactyly, Capillary hemangioma, Atrial septal defect, Hydrops fetalis, Postaxia... |
ORPHA:3378 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Hepatomegaly, Severe B lymphocytopenia, Coarse hair, B lymphocytopenia, Pancreati... |
ORPHA:83617 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Coarctation of aorta, Cavernous hemangioma of the face, Bifid sternum, Righ... |
OMIM:140850 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Incre... |
OMIM:259720 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Ventricular septal defect, Underdeveloped nasal alae, Blepharophi... |
ORPHA:2516 |
Osteogenesis Imperfecta, Type Xiii |
|
Osteoporosis, Increased bone mineral density, Joint hypermobility |
OMIM:614856 |
Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Kabuki Syndrome 1 |
|
Hydrocephalus, Prominent fingertip pads, Sparse eyebrow, Premature thelarche, Depressed nasal tip... |
OMIM:147920 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hydrocele testis, Pectus excavatum, Depressed nasal tip, Pulmonary artery sling, Delayed eruption... |
ORPHA:261537 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Increased bone mineral density, Retinal detachment, Delayed patellar ... |
ORPHA:163649 |
Majeed Syndrome |
|
Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypoplastic anemia, Splen... |
ORPHA:77297 |
Dysosteosclerosis |
|
Recurrent fractures, Increased bone mineral density, Optic atrophy, Coarse metaphyseal trabecular... |
ORPHA:1782 |
2Q37 Microdeletion Syndrome |
|
Short metacarpal, Sparse eyebrow, Depressed nasal bridge, Umbilical hernia, Clinodactyly of the 5... |
ORPHA:1001 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Pectus excavatum, Convex nasal ridge, Aortic valve stenosis, Flexio... |
OMIM:208050 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Increased bone mineral density, Papilledema, Thickened cortex of long bones, Retina... |
OMIM:127000 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... |
OMIM:600460 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Rhizomelia, Clubbing, M... |
OMIM:108720 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm |
OMIM:614823 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Hepatoblastoma, Depressed nasal bridge, Coat hanger sign of ribs, Frontal hirsut... |
ORPHA:254519 |
Trisomy 1Q |
|
Hydrocephalus, Congenital diaphragmatic hernia, Arachnodactyly, Depressed nasal bridge, Camptodac... |
ORPHA:261344 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Bulbous nose, Clinodactyly of the 5th finger, Hepatomegaly, Talipes equinovarus, 2-3 toe syndacty... |
OMIM:620025 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... |
OMIM:132900 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... |
ORPHA:77259 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... |
ORPHA:94089 |
Mowat-Wilson Syndrome |
|
Hydrocele testis, Abnormal cardiac septum morphology, Pectus excavatum, Depressed nasal tip, Pulm... |
ORPHA:2152 |
Renpenning Syndrome |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal hairshaft morphology... |
ORPHA:3242 |
Keutel Syndrome |
|
Short distal phalanx of finger, Alopecia, Depressed nasal bridge, Recurrent sinusitis, Calcificat... |
ORPHA:85202 |
Autosomal Dominant Cutis Laxa |
|
Peripheral pulmonary artery stenosis, Corneal opacity, Talipes equinovarus, Genu recurvatum, Addu... |
ORPHA:90348 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hyperbili... |
ORPHA:14 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... |
ORPHA:229 |
Pallister-Killian Syndrome |
|
Sparse hair, Sparse eyebrow, Alopecia, Depressed nasal bridge, Congenital hip dislocation, 11 pai... |
OMIM:601803 |
Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Hepatomegaly, Sparse hair, Depressed nasal ridge, Sparse eyeb... |
ORPHA:175 |
Fryns Syndrome |
|
Short distal phalanx of finger, Abnormal cardiac septum morphology, Narrow chest, Clinodactyly of... |
ORPHA:2059 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... |
ORPHA:90650 |
Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Alopecia, Depressed nasal bridge, Pectus carinatum, Ventricular septal defect, ... |
ORPHA:1507 |
Dextrocardia |
|
Hydrocephalus, Congenital malformation of the great arteries, Neuroblastoma, Congenital hip dislo... |
ORPHA:1666 |
Short-Rib Thoracic Dysplasia 12 |
|
Hydrocephalus, Hepatomegaly, Anencephaly, Ventricular septal defect, Splenomegaly, Short ribs, Bo... |
OMIM:269860 |
Craniodiaphyseal Dysplasia |
|
Depressed nasal bridge, Optic atrophy, Abnormal rib morphology, Diaphyseal thickening, Wide nasal... |
ORPHA:1513 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Sudden car... |
ORPHA:991 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Rib fusion, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Situs... |
OMIM:613686 |
Abetalipoproteinemia |
|
Retinopathy, Abetalipoproteinemia, Retinal degeneration, Acanthocytosis |
OMIM:200100 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Ventricular septal defect, Abnormal rib morphology, R... |
ORPHA:93267 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... |
OMIM:607323 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Optic nerv... |
OMIM:259730 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Single umbilical artery, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tri... |
ORPHA:3405 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Pectus excavatum, Thoracic aortic aneurysm, Arachnodactyly, Aortic tortuosity, Ascending aortic d... |
OMIM:616166 |
Hyperoxaluria, Primary, Type I |
|
Optic neuropathy, Increased bone mineral density, Retinopathy, Pathologic fracture, Optic atrophy... |
OMIM:259900 |
Atelosteogenesis Type Ii |
|
Broad phalanx, Facial midline hemangioma, Micromelia, Upper limb undergrowth, Rhizomelic arm shor... |
ORPHA:56304 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Facial edema, Macroglossia, Delayed proximal femoral epip... |
ORPHA:95717 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Symphalangism affecting t... |
ORPHA:2990 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... |
OMIM:602782 |
Tetrasomy 9P |
|
Abnormal mitral valve morphology, Hydrocephalus, Bulbous nose, Abnormal cardiac septum morphology... |
ORPHA:3310 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Giant Axonal Neuropathy |
|
Abnormality of the pituitary gland, Talipes equinovarus, Woolly hair, Abnormal hand morphology, G... |
ORPHA:643 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... |
ORPHA:91387 |
Diastrophic Dysplasia |
|
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density |
ORPHA:628 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Hydrocephalus, Bulbous nose, Ventricular septal defect, Optic ... |
ORPHA:567 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Depressed nasal ridge, Anterior pituitary agenesis, Abnormal prolactin level, Hypogonadotropic hy... |
ORPHA:95494 |
Familial Bicuspid Aortic Valve |
|
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
Limb Body Wall Complex |
|
Hydrocephalus, Lens subluxation, Depressed nasal bridge, Aplasia of the proximal phalanges of the... |
ORPHA:2369 |
Schimke Immunoosseous Dysplasia |
|
Bulbous nose, Stroke, Depressed nasal bridge, Coarse hair, Hypoplasia of the capital femoral epip... |
OMIM:242900 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Depressed nasal bridge, Delayed eruption of teeth, Optic atro... |
ORPHA:138 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... |
ORPHA:36913 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... |
ORPHA:93284 |
Giant Cell Arteritis |
|
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... |
ORPHA:397 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Papilledema, Eosinophilia, H... |
OMIM:607115 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Cantú Syndrome |
|
Long eyelashes, Broad ribs, Umbilical hernia, Abnormal metaphysis morphology, Cardiomegaly, Short... |
ORPHA:1517 |
Mosaic Trisomy 14 |
|
Narrow chest, Camptodactyly of finger, Abnormal rib morphology, Anteverted nares, Cryptorchidism,... |
ORPHA:1703 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Craniosynostosis, Atrioventricular canal defect, Shallow orbits, Ventricular septal defect, Abnor... |
ORPHA:453499 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Steatorrhea, Rod-cone dystrophy, Osteopenia, Thrombocytosis, Hypocholesterol... |
OMIM:212065 |
De Barsy Syndrome |
|
Pectus excavatum, Sparse hair, Congenital hip dislocation, Delayed eruption of teeth, Ventricular... |
ORPHA:2962 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Short nose, Thoracic hypoplasia, Cardiomegaly, Single umbilical artery... |
OMIM:616897 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Increased bone mineral density |
ORPHA:1237 |
Achondrogenesis Type 1B |
|
Narrow chest, Talipes equinovarus, Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Abnor... |
ORPHA:93298 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal mitral valve morphology, Heart murmur, Optic atrophy, Umbilical hernia, Increased size o... |
ORPHA:217085 |
Hurler Syndrome |
|
Angina pectoris, Hydrocephalus, Abnormal clavicle morphology, Hepatomegaly, Depressed nasal bridg... |
ORPHA:93473 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviation of finger, Ventricular... |
ORPHA:818 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal mitral valve morphology, Heart murmur, Optic atrophy, Umbilical hernia, Increased size o... |
ORPHA:217093 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Prune Belly Syndrome |
|
Pectus excavatum, Talipes equinovarus, Atrial septal defect, Congenital hip dislocation, Aplasia ... |
ORPHA:2970 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib fusion, Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Depressed nasal b... |
ORPHA:2311 |
Mucopolysaccharidosis Type 2 |
|
Abnormal mitral valve morphology, Hepatomegaly, Optic atrophy, Umbilical hernia, Abnormal heart m... |
ORPHA:580 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Marcus-Gunn Syndrome |
|
Abnormality of the sense of smell, Coloboma, Abnormal fifth cranial nerve morphology, Choanal atr... |
ORPHA:91412 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Shallow orbits, Ventricular septal defect, Iridodonesis, Broad ribs, Cata... |
OMIM:608328 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma |
OMIM:300864 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Abnormal sternum morphology, Atrial septal defect, Supernumerary nipple, Short ribs, Congenital h... |
ORPHA:2519 |
Craniofacial Microsomia |
|
Hydrocephalus, Hypoplasia of facial musculature, Partial duplication of thumb phalanx, Upper eyel... |
OMIM:164210 |
Right Atrial Isomerism |
|
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... |
OMIM:208530 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... |
OMIM:131300 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Micromelia, Ventricular septal defect, Abnormal rib morphology, Cataract,... |
ORPHA:2772 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Talipes equinovarus, Cryptorchidism, Upslanted palpebral fissure, Small hand, Left ventricular hy... |
OMIM:611209 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Hydrocephalus, Pectus excavatum, Craniosynostosis, Shallow orbits, Pectus carinatum, Downslanted ... |
OMIM:182212 |
Cranioectodermal Dysplasia 2 |
|
Pectus excavatum, Hepatomegaly, Sparse hair, Sparse eyebrow, Craniosynostosis, Depressed nasal br... |
OMIM:613610 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal rib morphology, Abnormal clavicle morphology, Tetralogy of Fallot, Upslanted palpebral f... |
ORPHA:276422 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Beckwith-Wiedemann Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Umbilical hernia, Adrenocortical... |
ORPHA:116 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Broad metacarpals, Interphalangeal joint contracture of finger, ... |
OMIM:151200 |
Jacobsen Syndrome |
|
Hydrocephalus, Pectus excavatum, Depressed nasal bridge, Microcornea, Ventricular septal defect, ... |
OMIM:147791 |
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified |
|
Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Thoracolumbar kyp... |
OMIM:130090 |
White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Abn... |
ORPHA:2475 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Atrial septal defect, Depressed nasal ridge, Abnormal ossificatio... |
ORPHA:79345 |
Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Hepatomegaly, Hepatoblastoma, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:373 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Heart murmur, Ventricular septal defect, Downslanted palpebral fissures, Interrupt... |
ORPHA:163979 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Abnormal carotid artery morphology, Craniosynostosis, Myocarditis, My... |
ORPHA:3342 |
Trisomy 18 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Holoprosencephaly, Camptodactyly of finger... |
ORPHA:3380 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Hepatomegaly, Aortic valve stenosis, Prominent... |
OMIM:253010 |
1P36 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ri... |
ORPHA:1606 |
Omodysplasia 1 |
|
Depressed nasal bridge, Hemangioma, Ventricular septal defect, Rhizomelia, Short nose, Umbilical ... |
OMIM:258315 |
Loeys-Dietz Syndrome 4 |
|
Torticollis, Flat cornea, Bicuspid aortic valve, Abnormal sternum morphology, Talipes equinovarus... |
OMIM:614816 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Hypoplastic left heart, Upslanted palpebral fissure, Broad thumb,... |
ORPHA:2001 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypop... |
ORPHA:2255 |
Basal Cell Nevus Syndrome |
|
Hydrocephalus, Down-sloping shoulders, Basal cell carcinoma, Cataract, Ovarian carcinoma, Sprenge... |
OMIM:109400 |
Gaucher Disease |
|
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... |
ORPHA:355 |
Proteus-Like Syndrome |
|
Hydrocephalus, Genu recurvatum, Abnormal pupil morphology, Exostoses, Splenomegaly, Hemangioma, A... |
ORPHA:2969 |
Metatropic Dysplasia |
|
Narrow chest, Hydrocephalus, Clinodactyly of the 5th finger, Depressed nasal bridge, Camptodactyl... |
ORPHA:2635 |
Mucopolysaccharidosis, Type Vi |
|
Hydrocephalus, Hepatomegaly, Prominent sternum, Depressed nasal bridge, Delayed eruption of teeth... |
OMIM:253200 |
Jeune Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Micromelia, Brachydactyl... |
ORPHA:474 |
Carey-Fineman-Ziter Syndrome |
|
Talipes equinovarus, Aplasia of the pectoralis major muscle, Brachydactyly, Ulnar deviation of fi... |
ORPHA:1358 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Pancreatitis, Abnormal morphology of bony orbit of skull, Non-Hodgkin lymphoma, Enlarg... |
ORPHA:449563 |
Dysosteosclerosis |
|
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Optic atrophy, Sclerotic scapulae, Inc... |
OMIM:224300 |
Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Abnormal rib... |
ORPHA:1488 |
Down Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Sandal gap, Brushfield spots, Double ou... |
OMIM:190685 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse eyebrow, Alopecia, Left atrial enlargement, Delayed closure of the anterior fontanelle, Ri... |
OMIM:614008 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Broad nasal tip, Delayed erupti... |
OMIM:300166 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Poland Syndrome |
|
Abnormality of the humerus, Pectus carinatum, Retinal hamartoma, Encephalocele, Sprengel anomaly,... |
ORPHA:2911 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Chronic hemolytic ane... |
OMIM:210250 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Sparse hair, Femoral bowing, Ulnar deviation of finger, Short nose, Contracture ... |
OMIM:601559 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Finger syndactyly, Depressed nasal ridge, Encephalocele, Delayed cranial suture closure, Broad ha... |
ORPHA:2211 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... |
ORPHA:391665 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Rib fusion, Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Optic ner... |
OMIM:206900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Narrow chest, Hydrocephalus, Abnormality of hair texture, He... |
ORPHA:667 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Depressed nasal bridge, Elevated circ... |
OMIM:619534 |
Fibrochondrogenesis 1 |
|
Depressed nasal bridge, Megalocornea, Rhizomelia, Short nose, Posterior rib cupping, Dumbbell-sha... |
OMIM:228520 |
Tangier Disease |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia |
ORPHA:31150 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hypertrichosis, Pectus excavatum, Craniosynostosis, Short nose, Long eyelashes, Sprengel anomaly,... |
OMIM:213980 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Larsen Syndrome |
|
Pectus excavatum, Short nail, Depressed nasal bridge, Shallow orbits, Pectus carinatum, Ventricul... |
OMIM:150250 |
Atelosteogenesis Type I |
|
Narrow chest, Joint dislocation, Talipes equinovarus, Short femur, Abnormal ossification involvin... |
ORPHA:1190 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Facial hirsutism, Ventricular septal defect, Downslanted palpebral fissures, Short nose, Long eye... |
ORPHA:444077 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Optic atrophy, Hypocalcemia |
OMIM:618476 |
Craniofacioskeletal Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Short palpebral fissure, Small hand, Barrel... |
OMIM:300712 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Bulbous nose, Double aortic arch, Posterior embryotoxon, Tetralogy of Fallot,... |
OMIM:192430 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Depressed nasal bridge, Downslanted palpebral ... |
ORPHA:90652 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Hirsutism, Atrial septal defect, Epicanthu... |
OMIM:619343 |
Poems Syndrome |
|
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Papilledema, Thrombocytosis, Scler... |
ORPHA:2905 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Distichiasis, Patent ductus arteriosus, ... |
OMIM:126320 |
Osteopathia Striata With Cranial Sclerosis |
|
Hydrocephalus, Pectus excavatum, Ventricular septal defect, Broad ribs, Delayed closure of the an... |
OMIM:300373 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Hydrocephalus, Corneal opacity, Congenital diaphragmatic hernia, ... |
ORPHA:1647 |
Fibromuscular Dysplasia, Arterial |
|
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... |
OMIM:135580 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Monosomy 9Q22.3 |
|
Hydrocephalus, Pectus excavatum, Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblast... |
ORPHA:77301 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Finger syndactyly, Congenital diaphragmatic hernia, Premature... |
ORPHA:887 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Absent eyebrow, Unilateral chest hypoplasia, Alopecia, Recurrent corneal erosions, Opa... |
OMIM:308205 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Ulnar deviat... |
OMIM:265000 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Hydrocephalus, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Optic disc colobo... |
OMIM:607872 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb, Sparse eyebrow, Tapered fi... |
ORPHA:3472 |
Fraser Syndrome 1 |
|
Hydrocephalus, Depressed nasal bridge, Cleft ala nasi, Abnormality of the thymus, Encephalocele, ... |
OMIM:219000 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Optic atrophy, Optic nerve comp... |
OMIM:612301 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Sparse hair, Aortic atherosclerotic lesion, Papillary renal cell carcinoma, Basal cell carcinoma,... |
ORPHA:363618 |
Short Rib-Polydactyly Syndrome |
|
Depressed nasal bridge, Micromelia, Hepatic cysts, Bowing of the long bones, Thoracic hypoplasia,... |
ORPHA:1505 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hydrocephalus, Abnormal clavicle morphology, Hepatomegaly, Coar... |
ORPHA:581 |
Refractory Anemia With Excess Blasts |
|