Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Abnormality of the middle ... |
OMIM:221300 |
Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Brachydactyly, Clinodactyly, Microcephaly |
OMIM:233270 |
Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
Sugarman Brachydactyly |
|
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... |
OMIM:272150 |
Brachydactyly, Type A3 |
|
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... |
OMIM:112700 |
Familial Digital Arthropathy-Brachydactyly |
|
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
Brachydactyly, Type A1, C |
|
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... |
OMIM:615072 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... |
ORPHA:860 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... |
ORPHA:3216 |
Cleidorhizomelic Syndrome |
|
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... |
ORPHA:1453 |
Brachydactyly, Type A1 |
|
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... |
OMIM:112500 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Conductive hearing impairment, Abnormality of the pinna, Bilateral conductive hearing impairment,... |
OMIM:128980 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... |
OMIM:606835 |
Brachydactyly, Type D |
|
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux |
OMIM:113200 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal heart morphology, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal c... |
ORPHA:294975 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... |
ORPHA:3246 |
Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs h... |
OMIM:211369 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Long-Thumb Brachydactyly Syndrome |
|
Long thumb, Brachydactyly, Short finger |
OMIM:112430 |
Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly |
OMIM:176305 |
Thiemann Disease, Familial Form |
|
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly |
ORPHA:3314 |
Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... |
OMIM:607004 |
Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... |
OMIM:112800 |
Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Ventricular septal defect, Failure to thrive, Double outlet right ventricle, Pulmonic stenosis, T... |
OMIM:601127 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... |
OMIM:611702 |
Brachydactyly Type A2 |
|
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... |
ORPHA:93396 |
Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
Liebenberg Syndrome |
|
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... |
OMIM:186550 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Short stature, Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Thrombocytopen... |
ORPHA:3319 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... |
OMIM:611263 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Hearing impairment |
OMIM:267400 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Abnormality of the metacarpal bones, Type A brachydactyly |
ORPHA:1078 |
Brachydactyly, Combined B And E Types |
|
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... |
OMIM:112440 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, ... |
ORPHA:52056 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Truncus Arteriosus |
|
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... |
ORPHA:3384 |
Arthrogryposis, Distal, Type 2B2 |
|
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... |
OMIM:618435 |
Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger |
ORPHA:1471 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Brachydactyly, Short t... |
ORPHA:391646 |
Syndactyly, Type V |
|
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... |
OMIM:186300 |
Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
Amelogenesis Imperfecta |
|
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... |
ORPHA:88661 |
Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
Multiple Synostoses Syndrome |
|
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... |
ORPHA:3237 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... |
OMIM:610140 |
Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
Thymic Aplasia With Fetal Death |
|
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth |
OMIM:274210 |
Scimitar Syndrome |
|
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... |
ORPHA:185 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... |
OMIM:616749 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... |
ORPHA:93384 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
Non-Syndromic Genetic Deafness |
|
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... |
ORPHA:87884 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hypertrophic cardiomyopathy, Truncus arteriosus, Pulmonary hypoplasia, Asplenia, Situs inversus t... |
OMIM:615415 |
Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Oligohy... |
OMIM:601927 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short stature, Mandibular prognathia, Kyphosis, Increased circulating IgE level, Dental malocclus... |
ORPHA:1858 |
Coloboma Of Macula With Type B Brachydactyly |
|
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... |
OMIM:612474 |
Eng-Strom Syndrome |
|
Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morphology, Camptodactyly of fi... |
ORPHA:1937 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... |
OMIM:204700 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity, Polydactyly |
OMIM:615988 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... |
OMIM:186570 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Widely spaced teeth, Malar flattening, Short stature, Dental malocclusion |
OMIM:616108 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Lambert Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Intrahepatic biliary atresia, Branchi... |
ORPHA:1296 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Brachydactyly Type B2 |
|
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... |
ORPHA:140908 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... |
OMIM:617912 |
Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... |
ORPHA:477781 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... |
OMIM:617478 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion |
OMIM:119540 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Brachydactyly Type B |
|
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... |
ORPHA:93383 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... |
ORPHA:1330 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... |
OMIM:226900 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... |
ORPHA:83451 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal mitral valve morphology, Mesomelia, Brachydactyly, Abnormal shoulder morphology |
ORPHA:1277 |
Oligodontia |
|
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... |
ORPHA:99798 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Truncus arteriosus, Failure to thrive, Double outlet right ventricle, ... |
ORPHA:3426 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity, Polydactyly |
OMIM:615989 |
Eosinophilia, Familial |
|
Leukocytosis, Recurrent bronchitis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopeni... |
OMIM:131400 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Absence Of The Pulmonary Artery |
|
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... |
ORPHA:980 |
Transaldolase Deficiency |
|
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Anemia, Hepatosplenomegal... |
ORPHA:101028 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... |
ORPHA:2299 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly |
ORPHA:46532 |
Brachydactyly-Distal Symphalangism Syndrome |
|
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... |
OMIM:113450 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion |
OMIM:130900 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Oligohydramnios, Overriding ao... |
OMIM:617022 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... |
ORPHA:295 |
Mcdonough Syndrome |
|
Abnormal palate morphology, Micrognathia, Short philtrum, Open bite, Short stature, Mandibular pr... |
ORPHA:2471 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... |
ORPHA:1228 |
Hypochondroplasia |
|
Genu varum, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Flared metaphy... |
OMIM:146000 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Pancytopenia And Occlusive Vascular Disease |
|
Leukopenia, Anemia, Pancytopenia, Thrombocytopenia, Peripheral arterial stenosis |
OMIM:167850 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Oligohyd... |
OMIM:617021 |
Symphalangism, Distal |
|
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... |
OMIM:185700 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Ventricular septal defect, Truncus arteriosus, Neonatal death |
OMIM:228940 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Brachydactyly, Metaphyseal sclerosi... |
OMIM:609052 |
Tetrasomy X |
|
Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly, Radioulnar synostosis |
ORPHA:9 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... |
OMIM:613751 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... |
ORPHA:1275 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th fin... |
OMIM:604381 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... |
ORPHA:3304 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation |
ORPHA:2516 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta |
OMIM:617217 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta |
OMIM:612529 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Kyphosis, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... |
ORPHA:2098 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Hypertension And Brachydactyly Syndrome |
|
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly |
OMIM:112410 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... |
OMIM:619271 |
Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Anauxetic Dysplasia 1 |
|
Small epiphyses, Short finger, Rhizomelia, Delayed ossification of carpal bones, Short toe, Flare... |
OMIM:607095 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Single ventricle, Right a... |
OMIM:601186 |
Auriculocondylar Syndrome 2 |
|
Mandibular condyle aplasia, Micrognathia, Cleft palate, Glossoptosis, Short mandibular rami, Narr... |
OMIM:614669 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... |
ORPHA:90646 |
Alpha-Mannosidosis |
|
Widely spaced teeth, Open bite, Macroglossia, Mandibular prognathia, Gingival overgrowth, Kyphosi... |
ORPHA:61 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... |
ORPHA:401935 |
Noonan Syndrome 12 |
|
Ventricular septal defect, Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ly... |
OMIM:618624 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Edema, Hypertension |
OMIM:189800 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Truncus arteriosus |
OMIM:601355 |
Craniosynostosis 3 |
|
Hallux valgus, Brachydactyly, Single transverse palmar crease |
OMIM:615314 |
Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Patchy distortion of vertebrae, Dental malocclusion |
OMIM:155050 |
Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fall... |
ORPHA:1919 |
Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Anomalous or... |
ORPHA:99050 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Rhizomelia |
OMIM:166990 |
Fanconi Anemia, Complementation Group T |
|
Short stature, Anemia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia |
OMIM:616435 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy, Persistent left s... |
ORPHA:477817 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta |
OMIM:301200 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, A... |
ORPHA:1164 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... |
OMIM:112910 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... |
OMIM:125500 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Cooks Syndrome |
|
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand |
ORPHA:1487 |
Loeffler Endocarditis |
|
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... |
ORPHA:75566 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Multiple Metaphyseal Dysplasia |
|
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... |
ORPHA:93430 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... |
OMIM:265380 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Osteosclerosis of the base of the skull, Anemia, Back pa... |
ORPHA:210110 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Microcephaly, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Micrognathia, Dental crowding, Short stature, Long philtrum, Cleft soft palate, Kyphoscoliosis, G... |
OMIM:616331 |
2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... |
ORPHA:2639 |
Weyers Acrofacial Dysostosis |
|
Postaxial foot polydactyly, Short palm, Postaxial hand polydactyly, Clinodactyly of the 5th finge... |
OMIM:193530 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly |
OMIM:614257 |
Proximal Symphalangism |
|
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... |
ORPHA:3250 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Large earlobe, Conductive hearing impairment, Morphological abnormality of the middle ear, Overfo... |
ORPHA:79113 |
Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... |
ORPHA:1727 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Parastremmatic Dwarfism |
|
Short neck, Severe short stature, Scoliosis, Kyphosis |
OMIM:168400 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormal cardiac septum morphology, ... |
ORPHA:2370 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Growth delay, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... |
ORPHA:169079 |
Acromesomelic Dysplasia 2A |
|
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... |
OMIM:200700 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Conductive hearing impairment, Microtia, Aplasia/Hypoplasia of the middle ear |
OMIM:251800 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
Branchiootic Syndrome |
|
Conductive hearing impairment, Morphological abnormality of the middle ear, Hearing impairment, S... |
ORPHA:52429 |
Achondroplasia |
|
Genu varum, Megalencephaly, Bowing of the legs, Rhizomelia, Flared metaphysis, Limited elbow exte... |
OMIM:100800 |
Regional Odontodysplasia |
|
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... |
ORPHA:83450 |
Rubinstein-Taybi Syndrome 2 |
|
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Retrognathia, Dental... |
OMIM:613684 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity, Polydactyly |
OMIM:615987 |
Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:1795 |
Emery-Nelson Syndrome |
|
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Contra... |
ORPHA:1927 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypogonadism, Obesity, Clinodactyly |
OMIM:615984 |
Otosclerosis 7 |
|
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... |
OMIM:611572 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Growth delay, Short stature, Kyphoscoliosis, Malar flattening, Amelogenesis imperfecta, Thrombocy... |
OMIM:614727 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
Catel-Manzke Syndrome |
|
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta |
OMIM:616145 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation |
OMIM:616589 |
Meniere Disease |
|
Tinnitus, Vertigo, Hearing impairment |
OMIM:156000 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... |
OMIM:617927 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Atrial septal defect, Type E brachydactyly |
OMIM:113301 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... |
OMIM:618164 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... |
OMIM:613759 |
Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Abnormal heart morphology, Absent tibia, Polydactyly |
OMIM:188740 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Heart-Hand Syndrome Type 3 |
|
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe |
ORPHA:1342 |
Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Prominent superficial veins, Thrombocytopen... |
ORPHA:141179 |
Metaphyseal Acroscyphodysplasia |
|
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... |
ORPHA:1240 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... |
OMIM:601438 |
Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... |
ORPHA:3287 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Intrauterine growth retardation |
ORPHA:1980 |
Cerebellofaciodental Syndrome |
|
Macrodontia of permanent maxillary central incisor, Short stature, Taurodontia, Dental malocclusi... |
OMIM:616202 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, High palate, Long philtrum, Anemia, Kyphosis, Scoliosis, Delayed puberty |
ORPHA:2598 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Growth delay, Short stature |
OMIM:613606 |
Acrocapitofemoral Dysplasia |
|
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
Deafness, Autosomal Dominant 41 |
|
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:608224 |
Pseudoachondroplasia |
|
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... |
ORPHA:750 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, Brachydactyly, Camptodactyly |
ORPHA:444051 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart |
OMIM:601348 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Fanconi Anemia, Complementation Group G |
|
Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia |
OMIM:614082 |
Spondyloperipheral Dysplasia |
|
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... |
OMIM:271700 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Weight loss, Splenomegaly |
ORPHA:52416 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Conductive hearing impairment, Postaxial polydactyly, Failure to thrive, Posterio... |
OMIM:277170 |
Deafness, Autosomal Dominant 50 |
|
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... |
OMIM:613074 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
Pseudopseudohypoparathyroidism |
|
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Shor... |
ORPHA:79445 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Brachydactyly |
ORPHA:168796 |
Moyamoya Disease With Early-Onset Achalasia |
|
Moyamoya phenomenon, Hypertension, Raynaud phenomenon, Thrombocytopenia, Abnormal platelet aggreg... |
ORPHA:401945 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Congestive heart failure, Prominent superficial veins, Thrombocytopen... |
ORPHA:141184 |
Pleural Mesothelioma |
|
Obstruction of the superior vena cava, Lymphadenopathy, Weight loss, Abnormal cardiovascular syst... |
ORPHA:50251 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Isolated Brachycephaly |
|
Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Bone marrow ... |
OMIM:618116 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... |
ORPHA:968 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Short philtrum, Dental malocclusion |
OMIM:300210 |
Amelogenesis Imperfecta, Type Ih |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... |
OMIM:616221 |
Acrocraniofacial Dysostosis |
|
Conductive hearing impairment, Triphalangeal thumb, Tapered finger, Ulnar deviation of finger, Pa... |
ORPHA:949 |
Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... |
OMIM:614980 |
Transaldolase Deficiency |
|
Telangiectasia, Ventricular septal defect, Small for gestational age, Failure to thrive, Coarctat... |
OMIM:606003 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia |
OMIM:617638 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... |
OMIM:609029 |
Hypochondroplasia |
|
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... |
ORPHA:429 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... |
OMIM:618316 |
Hirschsprung Disease With Type D Brachydactyly |
|
Type D brachydactyly, Short thumb |
OMIM:306980 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Mitral regurgitation, Hypoplasia of the ... |
OMIM:612541 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Hearing impairment, Partial duplication of thumb phalanx, Central Y-shaped metacarpa... |
OMIM:617926 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... |
ORPHA:93387 |
Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios |
OMIM:616920 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
High palate, Intrauterine growth retardation, Open bite, Short stature, Mandibular prognathia, Ab... |
ORPHA:1327 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Primary Ciliary Dyskinesia |
|
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Persistent left superior vena cava, Situs inv... |
ORPHA:244 |
Pycnodysostosis |
|
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Hypoplasia of the maxilla, Spondylol... |
ORPHA:763 |
Amed Syndrome, Digenic |
|
Leukopenia, Persistent left superior vena cava, Failure to thrive, Anemia, Bone marrow hypocellul... |
OMIM:619151 |
Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Micrognathia, Cleft palate, Impaired mastication, Glossoptosis, Anter... |
OMIM:602483 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Short stature, Irregular vertebral endplates, Kyphoscoliosis, Platyspond... |
OMIM:612350 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Failure to thrive, Hypopl... |
OMIM:600001 |
Pelger-Huet Anomaly |
|
Eczema, Upper limb undergrowth, Neutropenia, Short 5th metacarpal, Short 3rd metacarpal, Polydact... |
OMIM:169400 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Spastic Paraplegia 18, Autosomal Recessive |
|
High palate, Scoliosis, Kyphosis |
OMIM:611225 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Triphalangeal thumb, Brachydactyly |
OMIM:124480 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb |
ORPHA:2150 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand polydactyly, Bra... |
ORPHA:1278 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Short stature, Malar flattening, Dental malocclusion, Short neck |
ORPHA:436245 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Seckel Syndrome 1 |
|
Micrognathia, High palate, Cleft palate, Intrauterine growth retardation, Proportionate short sta... |
OMIM:210600 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Underdeveloped tragus,... |
ORPHA:50815 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic anemia, Atrial septal def... |
ORPHA:49827 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Short 5th metacarpal, Short digit, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:228190 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Small for gestational age, Hypoplasia of righ... |
ORPHA:2255 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... |
ORPHA:40 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... |
ORPHA:3236 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
Smith-Magenis Syndrome |
|
Broad palm, Morphological abnormality of the middle ear, Increased body weight, Hearing impairmen... |
OMIM:182290 |
Three M Syndrome 2 |
|
High palate, Intrauterine growth retardation, Short stature, Long philtrum, Malar flattening, Del... |
OMIM:612921 |
Mcdonough Syndrome |
|
Micrognathia, Short philtrum, Short stature, Mandibular prognathia, Kyphoscoliosis, Furrowed tong... |
OMIM:248950 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Short middle phalanx of finger, Talipes equinovarus, Brachydactyly, Abnormal cardiac septum morph... |
OMIM:612626 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... |
OMIM:614493 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Hypoplas... |
OMIM:617102 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia, Cardiomyopathy |
ORPHA:67048 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... |
OMIM:204650 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... |
OMIM:618987 |
Amelogenesis Imperfecta, Type Iiic |
|
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... |
OMIM:618386 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Neonatal death, Stillbirth, Clinodactyl... |
OMIM:236500 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Delayed ossification of carpal bones |
OMIM:618392 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Abnormal eosinophil morphology... |
ORPHA:724 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Neonatal death, Metaphyseal irregu... |
OMIM:187601 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, Brachydactyly, Clinodactyly, Microcephaly |
OMIM:617061 |
Emanuel Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Failure to thrive, Patent ductus arteriosus, Pulmo... |
ORPHA:96170 |
Camptobrachydactyly |
|
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... |
ORPHA:1319 |
Mulibrey Nanism |
|
Hypodontia, Intrauterine growth retardation, Growth delay, Short stature, Hypoplastic frontal sin... |
OMIM:253250 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Anemia, Patent ductus arteriosus, Polyhydramnios, Thrombocytopenia, Hydrops fetalis |
ORPHA:2123 |
Septooptic Dysplasia |
|
Polydactyly, Short finger, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased res... |
OMIM:182230 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Ascites, Failure to thrive, Abnormal heart morphology, Anemia, Patent ductus arteriosus, Oligohyd... |
OMIM:608104 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Thick lower lip vermilion, Micrognathia, Wide mouth, Short stature, Malar flattening, Everted low... |
ORPHA:85321 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Butterfly vertebrae, Cleft palate, Smooth philtrum, Pierre-Robin sequence, High pal... |
OMIM:611209 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemi... |
ORPHA:3405 |
Pulmonary Blastoma |
|
Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma |
ORPHA:64741 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic sten... |
OMIM:179613 |
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Micrognathia, High palate, Short stature, Kyphoscoliosis, Supernumerary tooth, Delayed eruption o... |
OMIM:264475 |
Fanconi Anemia, Complementation Group S |
|
Short stature, Thick upper lip vermilion, Anemia, Narrow palate, Dental malocclusion, Macrodontia |
OMIM:617883 |
Mental Retardation, Buenos Aires Type |
|
Carious teeth, High palate, Wide mouth, Mandibular prognathia, Thin upper lip vermilion, Dental m... |
OMIM:249630 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... |
ORPHA:240 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Lymphadenopathy, Weight loss, Bone marrow ... |
ORPHA:3226 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Intracranial hemorrhage, Anemia, Patent ductu... |
ORPHA:163979 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Kyphosis |
OMIM:617087 |
Branchiogenic-Deafness Syndrome |
|
Sensorineural hearing impairment, Atresia of the external auditory canal, Abnormality of the midd... |
OMIM:609166 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... |
OMIM:220210 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Short... |
OMIM:609616 |
Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... |
ORPHA:474 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Postnatal growth retarda... |
OMIM:608940 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... |
OMIM:609441 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Lymphadenopathy, Edema, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:603552 |
Keipert Syndrome |
|
Broad distal phalanx of finger, Broad hallux, Broad thumb, Clinodactyly, Brachydactyly |
OMIM:301026 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Leukopenia, Small for gestational age, Double outlet right ventricle, ... |
OMIM:301056 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis, Lymphocytosis, Vasculitis, Pan... |
OMIM:308240 |
Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Limb undergrowth, Brachydactyly, Massively thickened long bone cortices, Micromelia, Microcephaly |
OMIM:122900 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... |
OMIM:606217 |
Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Joint con... |
OMIM:113000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Failure to thrive, Anemia, Cardiomyopathy, Splenomegaly, Thrombocytopenia, Dehydration |
ORPHA:79312 |
Bardet-Biedl Syndrome 22 |
|
Polydactyly, Large for gestational age, Hypogonadism, Postaxial foot polydactyly, Obesity |
OMIM:617119 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... |
ORPHA:65759 |
Transcobalamin Deficiency |
|
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... |
ORPHA:859 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Ventricular septal defect, Asplenia, Failure to thrive, Mitral atresia, Double outl... |
OMIM:306955 |
Brachyolmia Type 1, Hobaek Type |
|
Intervertebral space narrowing, Back pain, Kyphosis, Disproportionate short-trunk short stature, ... |
OMIM:271530 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... |
OMIM:304400 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... |
ORPHA:1457 |
Velocardiofacial Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Unilateral primary pulmonary dysgenesis, Righ... |
OMIM:192430 |
Potocki-Lupski Syndrome |
|
Micrognathia, High palate, Smooth philtrum, Wide mouth, Short stature, Mandibular prognathia, Den... |
OMIM:610883 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Weight loss, Arthritis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly |
OMIM:114150 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... |
OMIM:113310 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Simplified gyral pattern, Mic... |
OMIM:617604 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Fibular hypoplasia, Atrial septal defect, Postaxial oligodactyly, Unilateral ulna... |
OMIM:608571 |
Deafness, Autosomal Dominant 2A |
|
Tinnitus, Hearing impairment |
OMIM:600101 |
Deafness, Autosomal Dominant 58 |
|
Tinnitus, Hearing impairment |
OMIM:615654 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:617243 |
Vestibulocochlear Dysfunction, Progressive |
|
Progressive hearing impairment, Tinnitus, Vestibular areflexia |
OMIM:193005 |
Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Talipes equinovarus,... |
OMIM:211920 |
Short Stature-Obesity Syndrome |
|
Limb undergrowth, Clinodactyly of the 5th finger, Micromelia, Brachydactyly |
OMIM:269870 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Protruding ear, Polydactyly, Small for gestational age, Upper limb asymmetry, Decreased body weig... |
ORPHA:231140 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the elbow, Abnormality of epiphysis morphology, Rhizomelia, P... |
ORPHA:3098 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity, Polydactyly |
OMIM:615996 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytope... |
OMIM:613011 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... |
OMIM:605376 |
Reticular Dysgenesis |
|
Leukopenia, Dehydration, Failure to thrive, Weight loss, Anemia, Recurrent respiratory infections... |
ORPHA:33355 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Vascular calcification, Pancytopenia, Thrombocytopenia, Decreased body weight |
OMIM:231000 |
Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... |
ORPHA:1406 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Pulmonary insufficiency, B lymphocytopenia, Failure to thrive, Recurrent upper respiratory tract ... |
ORPHA:277 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Anemia, Patent ductus arteriosus, Splenomegaly, Atrial septal defect, ... |
ORPHA:290 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Conductive hearing impairment, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Sensorineura... |
ORPHA:2549 |
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... |
OMIM:106990 |
Wt Limb-Blood Syndrome |
|
Micrognathia, Hypoplastic anemia, Leukemia, Retrognathia, Pancytopenia, Thrombocytopenia |
OMIM:194350 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eczema, Bronchiectasis, Recurrent otitis media, Joint contracture of the hand, Clubbing, Keratiti... |
OMIM:618523 |
Acromicric Dysplasia |
|
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... |
ORPHA:969 |
Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... |
OMIM:228900 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral ... |
ORPHA:848 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... |
ORPHA:166011 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... |
ORPHA:1856 |
Igg4-Related Aortitis |
|
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... |
ORPHA:449400 |
Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Toe clinodac... |
OMIM:300244 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:1354 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... |
OMIM:156530 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Polydactyly, Camptodactyly |
OMIM:614815 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Growth delay |
OMIM:613987 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Unconjugated hyperbilirubinemia, Polycythemia, Steppage gait, Bradykinesia, Hypermangan... |
OMIM:613280 |
Metaphyseal Acroscyphodysplasia |
|
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... |
OMIM:250215 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:614947 |
X-Linked Mandibulofacial Dysostosis |
|
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly, Microcephaly |
ORPHA:1131 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Torus palatinus, Dental malocclusion, Sclerotic vertebral body |
OMIM:144750 |
Aminopterin Syndrome Sine Aminopterin |
|
Megalencephaly, Joint contracture of the hand, Arachnodactyly, Microcephaly, Short thumb, Syndact... |
OMIM:600325 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Abnormal femoral head morphology, Abnormality of the wrist, Protrusio ace... |
ORPHA:2619 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... |
OMIM:601560 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Ulnar deviation of finger, Camptodactyly of finger, Abnormality of pelvic girdle bone morphology,... |
ORPHA:2928 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Cerebral atrophy, Postaxial polydactyly, Short finger, Foot polydactyly, Brachyda... |
OMIM:258860 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidia... |
OMIM:618282 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... |
OMIM:249270 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Epistaxis, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Broad finger, Small hand, Short phalanx of finger, Clinodactyly, Brachydactyly |
OMIM:614684 |
Hydrolethalus Syndrome 2 |
|
Preaxial polydactyly, Agenesis of corpus callosum, Anencephaly, Postaxial polydactyly |
OMIM:614120 |
Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Truncal obesity, Syndactyly, Postaxial foot polydactyly, Post... |
OMIM:615986 |
Wolcott-Rallison Syndrome |
|
Neutropenia, Ascites, Iron deficiency anemia, Double outlet right ventricle, Lymphocytosis, Atria... |
ORPHA:1667 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Immunodeficiency 91 And Hyperinflammation |
|
Monocytosis, Failure to thrive, Lymphadenopathy, Edema, Pulmonary hemorrhage, Recurrent lower res... |
OMIM:619644 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Hepatosplenomegaly, Abnormal pleura morphology, Pulmonary fibrosis, ... |
ORPHA:210136 |
Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Talipes equinovarus, Finger symphalangism, Carpal synostosis, Brachydactyly, H... |
OMIM:610017 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... |
OMIM:619313 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Metaphyseal irregularity, Stillbirth, Brachydactyly, Snail-like ilia, Advan... |
OMIM:269250 |
Klippel-Trénaunay Syndrome |
|
Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal h... |
ORPHA:90308 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed epiphyseal ossif... |
ORPHA:166016 |
Sengers Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia |
OMIM:212350 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|