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