| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Conductive hearing impairment, Pectus excavatum, Spondylolisthesis, Prominent stern... |
OMIM:617877 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis |
ORPHA:111 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Joint stiffness, Micrognathia, Short neck, Ventricular septal def... |
ORPHA:2516 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Craniosynostosis, Overfolded helix, Hypoplasia of the radius, Short neck, Hypop... |
OMIM:609945 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Vertebral segmentation defect, Bicuspid aortic valve, Talipes equi... |
OMIM:618845 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
| Sandestig-Stefanova Syndrome |
|
Angulated antihelix, Convex nasal ridge, Muscular ventricular septal defect, Prominent metopic ri... |
OMIM:618804 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Pulmonary artery atresi... |
ORPHA:401935 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Atrial septal defect, Aortic valve stenosis, Hypoplastic left hear... |
OMIM:220210 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Bulbous nose, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... |
OMIM:612474 |
| Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Growth delay, Pectus excavatum, Atrial septal defect, Joint contra... |
OMIM:179613 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Myelomeningocele, Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Unilat... |
OMIM:613686 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Atrioventricular canal defect, Short neck, Ventricular septal de... |
ORPHA:508498 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Abnormal mitral valve morphology, Kyphosis, Atrial septal defect, Accelerated skele... |
ORPHA:1354 |
| Emanuel Syndrome |
|
Kyphosis, Atrial septal defect, Aortic valve stenosis, Low hanging columella, Congenital diaphrag... |
OMIM:609029 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Depressed nasal bridge, Cut... |
OMIM:618316 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Ventricular septal defect, Hydranencephaly, Underdeveloped nasal ... |
OMIM:601355 |
| Placental Insufficiency |
|
Preeclampsia, Proportionate short stature, Small placenta, Eclampsia, Abnormal umbilical cord blo... |
ORPHA:439167 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Abnormality of the ankles, Ventricular s... |
ORPHA:96170 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Charge Syndrome |
|
Aplasia of the semicircular canal, Hemivertebrae, Down-sloping shoulders, Ventricular septal defe... |
OMIM:214800 |
| Laurin-Sandrow Syndrome |
|
Depressed nasal ridge, Fibular duplication, Abnormality of the nose, Abnormal metacarpal morpholo... |
ORPHA:2378 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex IV, Hypertrophic card... |
OMIM:618378 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Ventricular septal defect, H... |
OMIM:228940 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
| Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Absent thumb, Micrognathia, Short thumb, Ventricular septal defect, Truncus a... |
OMIM:617516 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Cardiospondylocarpofacial Syndrome |
|
Bulbous nose, Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular septal defec... |
OMIM:157800 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ulnar deviation of finger, Ventricular septal defect, Sandal gap, Bowing of th... |
ORPHA:261330 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Thickened nucha... |
OMIM:618164 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed skeletal maturation, Severe intrauterine growth retardation, Congenital sensorineural hea... |
ORPHA:73272 |
| Phaver Syndrome |
|
Overfolded helix, Depressed nasal bridge, Radioulnar synostosis, Ventricular septal defect, Ulnar... |
ORPHA:2876 |
| Occipital Horn Syndrome |
|
Pectus excavatum, Osteopenia, Down-sloping shoulders, Platyspondyly, Abnormality of the pubic bon... |
ORPHA:198 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short long bone, Short ri... |
OMIM:613091 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Short metacarpal, Depressed nasal ridge, Horizontal sacrum,... |
OMIM:215140 |
| Chromosome 9P Deletion Syndrome |
|
Clinodactyly of the 4th toe, Depressed nasal bridge, Short neck, Tapered finger, Heart murmur, Ve... |
OMIM:158170 |
| Tibial Hemimelia |
|
Hemivertebrae, Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... |
ORPHA:93322 |
| Verheij Syndrome |
|
Abnormal cardiac septum morphology, Short stature, Hemivertebrae, Vertebral fusion, Short neck, S... |
OMIM:615583 |
| Mosaic Trisomy 16 |
|
Single coronary artery origin, Ventricular septal defect, Intrauterine growth retardation, Single... |
ORPHA:1708 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Talipes equinovarus, Short neck, Neonatal death, Camptodactyly, Patent ductus arteriosus, Low-set... |
OMIM:608104 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Micrognathia, Dextrocardia, Prominent nose, Macrotia, Supernumerar... |
OMIM:221950 |
| Sotos Syndrome |
|
Accelerated skeletal maturation, Muscular ventricular septal defect, Otitis media, Broad nasal ti... |
OMIM:117550 |
| Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Sprengel anomaly, Butterfly vertebrae, Pectus excavatum, Muscular ventricular septal defect, Shor... |
OMIM:619227 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Intrauterine growth retardation, Underdeveloped nasal alae, Truncus arteriosus, Short stature |
OMIM:611867 |
| Femoral-Facial Syndrome |
|
Abnormal pinna morphology, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Ventric... |
OMIM:134780 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Low-set ears, Talipes equinovarus, Short stature, Bilateral talipes equinovarus, Depressed nasal ... |
OMIM:119800 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond... |
OMIM:156530 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Pterygium, Osteolysi... |
ORPHA:371428 |
| Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... |
ORPHA:392 |
| Acrocardiofacial Syndrome |
|
Mitral stenosis, Atrial septal defect, Joint dislocation, Finger syndactyly, Split foot, Camptoda... |
ORPHA:2008 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... |
ORPHA:3268 |
| Aarskog-Scott Syndrome |
|
Pectus excavatum, Short neck, Megalocornea, Umbilical hernia, Clinodactyly of the 5th finger, Gen... |
ORPHA:915 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Depressed nasal bridge, Hemivertebrae, Tapered finger, Ventricular septal defect, Short nose, Umb... |
OMIM:301040 |
| Long Qt Syndrome 16 |
|
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... |
OMIM:618782 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... |
ORPHA:93323 |
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
2-3 toe syndactyly, Atrial septal defect, Secundum atrial septal defect, Short 2nd finger, Short ... |
OMIM:600987 |
| Multiple Pterygium Syndrome, X-Linked |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Depress... |
OMIM:312150 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Kbg Syndrome |
|
Short stature, Vertebral fusion, Cutaneous syndactyly, Short neck, Scoliosis, Bilateral conductiv... |
ORPHA:2332 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Abnormality of cartilage of external ear, Hypoplastic left heart, ... |
ORPHA:3426 |
| Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Atrial septal defect, Low hanging columella, Muscular ventricular septal defect,... |
ORPHA:363444 |
| Neu-Laxova Syndrome 1 |
|
Short neck, Micromelia, Small placenta, Ventricular septal defect, Cataract, Rocker bottom foot, ... |
OMIM:256520 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
| Lateral Meningocele Syndrome |
|
Pectus excavatum, Short neck, Biconcave vertebral bodies, Short nasal bridge, Umbilical hernia, A... |
OMIM:130720 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Multiple pterygia, Joint dislocation, Hypoplastic heart, Flexion contracture, Depress... |
OMIM:253290 |
| Restrictive Dermopathy |
|
Multiple joint contractures, Osteopenia, Structural foot deformity, Thoracic kyphoscoliosis, Smal... |
ORPHA:1662 |
| Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Short stature, Camptodactyly of finger, Sco... |
ORPHA:1937 |
| Distal Monosomy 10Q |
|
Facial diplegia, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Tapered finger, Mo... |
ORPHA:96148 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Craniosynostosis, Talipes equinovalgus, Ventricular septal defect, Rocker bottom foot, Intrauteri... |
OMIM:301056 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Micrognathia, Ventricular septal defect, Transposition of the grea... |
OMIM:231060 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Protruding ear, 2-3 toe syndactyly, Atrial septal defect, Pulmonic... |
ORPHA:3304 |
| Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Depressed nasal bridge, Short neck, Platyspondyly... |
ORPHA:485 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Absent glenoid fossa, Depresse... |
ORPHA:96334 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Short stature, Pulmonic stenosis, Single v... |
OMIM:601186 |
| Thymic Aplasia With Fetal Death |
|
Stillbirth, Truncus arteriosus |
OMIM:274210 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Double outlet right ventricle, Kyphosis, Sprengel anomaly, Atrial septal defect, Short stature, P... |
OMIM:618223 |
| Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... |
ORPHA:99095 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Micrognathia, Short neck, Platyspondyly, Ventricular ... |
ORPHA:93267 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Syndactyly, Brachydactyly, Ventricular septal defect, Portal hypertensio... |
OMIM:616589 |
| Frank-Ter Haar Syndrome |
|
Pectus excavatum, Depressed nasal bridge, Broad nasal tip, Osteopenia, Megalocornea, Ventricular ... |
OMIM:249420 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Rubinstein-Taybi Syndrome 1 |
|
Pectus excavatum, Prominent fingertip pads, Ventricular septal defect, Broad hallux, Cataract, De... |
OMIM:180849 |
| Desbuquois Syndrome |
|
Accelerated skeletal maturation, Depressed nasal bridge, Aplasia/Hypoplasia of the abdominal wall... |
ORPHA:1425 |
| Alg12-Cdg |
|
Abnormal pinna morphology, Muscular ventricular septal defect, Sandal gap, Intrauterine growth re... |
ORPHA:79324 |
| Metatropic Dysplasia |
|
Narrow chest, Joint stiffness, Kyphosis, Halberd-shaped pelvis, Severe short stature, Clinodactyl... |
ORPHA:2635 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Severe short stature, Back pain, Short... |
OMIM:277300 |
| Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Ectrodactyly, Clinodactyly of the 5th finger, Micrognathia, Syndactyly, Polydactyly, Short 5th fi... |
ORPHA:397590 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow ankylosis, Depressed nasal tip, Short neck, Small placenta, Rocker bottom foot, Intrauterin... |
OMIM:208150 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, Short neck, 11 pairs of ribs, Rhizomelia,... |
OMIM:108720 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Sandal gap, Abnormal heart morphology, Doub... |
ORPHA:477817 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Talipes equinovarus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Femor... |
OMIM:615415 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Platyspondyly, Short neck, Biconcave vertebral bodies, Pectus cari... |
ORPHA:93315 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Vertebral segmentation defect, Short distal phalanx of finger, Bicuspid aortic valve, Anomalous p... |
ORPHA:1120 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, Ventricular septal defect, ... |
ORPHA:254534 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov... |
OMIM:607143 |
| Ogden Syndrome |
|
Pectus excavatum, Depressed nasal bridge, Depressed nasal tip, Congenital hip dislocation, Short ... |
OMIM:300855 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Pectus excavatum, Accelerated skeletal maturation, Finger joint hypermobility, Depressed nasal br... |
OMIM:618870 |
| Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
| Otopalatodigital Syndrome Type 1 |
|
Short distal phalanx of finger, Short palm, Increased bone mineral density, Abnormal vertebral se... |
ORPHA:90650 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... |
OMIM:609052 |
| Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... |
OMIM:119100 |
| Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasa... |
OMIM:201000 |
| Koolen-De Vries Syndrome |
|
Bulbous nose, Pectus excavatum, Slender finger, Prominent fingertip pads, Overfolded helix, Ventr... |
OMIM:610443 |
| Omodysplasia 1 |
|
Depressed nasal bridge, Short neck, Ventricular septal defect, Rhizomelia, Short nose, Umbilical ... |
OMIM:258315 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Palpitations, Arrhythmia, ST segment elevation, Cardiomyocyte hyp... |
ORPHA:263297 |
| 22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Bulbous nose, Overfolded helix, Short neck, Ventricular septal defect, Catarac... |
ORPHA:567 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Conductive hearing impairment, Abnormal pinna ... |
OMIM:214300 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Short stature, Craniosy... |
OMIM:178110 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Patellar dislocation, Clinoda... |
ORPHA:3320 |
| Otopalatodigital Syndrome Type 2 |
|
Abnormal cardiac septum morphology, Abnormal pinna morphology, Depressed nasal bridge, Short nose... |
ORPHA:90652 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Depressed nasal bridge, Short neck, Umbilical hernia, Intraute... |
ORPHA:2311 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... |
ORPHA:1972 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Abnormality of the middle ear, Congenital diaphragmatic hernia, Sh... |
ORPHA:1488 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Overlapping toe, Atrial septal defect, Systolic heart murmur, Tetralogy of Fal... |
OMIM:617478 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... |
ORPHA:254528 |
| Halperin-Birk Syndrome |
|
Talipes equinovarus, Congenital diaphragmatic hernia, Flexion contracture, Micrognathia, Developm... |
OMIM:618651 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... |
ORPHA:79345 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ab... |
OMIM:601376 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Catel-Manzke Syndrome |
|
Abnormal pinna morphology, Pectus excavatum, Joint dislocation, Clinodactyly of the 5th finger, T... |
OMIM:616145 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... |
OMIM:115197 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
OMIM:600001 |
| Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Overfolded helix, Depressed nasal bridge, Micromelia, Symphalangism... |
ORPHA:628 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... |
ORPHA:66637 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Scoliosis, Posterior rib fu... |
OMIM:122600 |
| Myhre Syndrome |
|
Cone-shaped epiphysis, Short neck, Birth length less than 3rd percentile, Platyspondyly, Ventricu... |
OMIM:139210 |
| 16P13.11 Microduplication Syndrome |
|
Pectus excavatum, Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, T... |
ORPHA:261243 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Depressed nasal ridge, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd... |
OMIM:118651 |
| Femoral-Facial Syndrome |
|
Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Vertebral segmentation defec... |
ORPHA:1988 |
| Short Rib-Polydactyly Syndrome |
|
Depressed nasal bridge, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine... |
ORPHA:1505 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
| Charge Syndrome |
|
Abnormal cardiac septum morphology, Overfolded helix, Depressed nasal bridge, Hemivertebrae, Abno... |
ORPHA:138 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Short stature, Small hand, Scoliosis, Syndactyly, Abnormal thorax morph... |
ORPHA:1445 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Severe short stature, Short neck, Scoliosis, Abnormal sacrum morph... |
ORPHA:1797 |
| Achondrogenesis Type 1B |
|
Narrow chest, Severe short stature, Talipes equinovarus, Thickened nuchal skin fold, Micrognathia... |
ORPHA:93298 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Short neck, Hammertoe, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosi... |
OMIM:618000 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Short neck, Ulnar deviation of finger, Short nose, Contracture o... |
OMIM:601559 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Short clavicles, Atrial septal defect, Short stature, Cupped ear, Coarctation of ao... |
OMIM:617159 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Muscular ventricular septal defect, Adducted thumb, Short stature, Brachydactyly, Low-set ears |
OMIM:620062 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Radioulnar synostosis, Elbow dislocation, Anterior vertebral fusion, Microtia, Short humerus, Sho... |
OMIM:171480 |
| Wrinkly Skin Syndrome |
|
Pectus excavatum, Muscular ventricular septal defect, Osteopenia, Congenital hip dislocation, Umb... |
OMIM:278250 |
| Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... |
ORPHA:980 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
| Apert Syndrome |
|
Vertebral segmentation defect, Sensorineural hearing impairment, Conductive hearing impairment, C... |
ORPHA:87 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Cataract, Sandal gap,... |
ORPHA:959 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Joint stiffness, Protruding ear, Congenital diaphragmatic hernia, ... |
ORPHA:1166 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability, Short stature |
OMIM:251250 |
| Basal Cell Nevus Syndrome |
|
Hemivertebrae, Down-sloping shoulders, Cataract, Vertebral wedging, Plantar pits, Sprengel anomal... |
OMIM:109400 |
| Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Ventricular septal defect, Hypoplasia of the ulna, Catara... |
OMIM:607323 |
| Fibrochondrogenesis 1 |
|
Abnormal pinna morphology, Depressed nasal bridge, Short neck, Platyspondyly, Megalocornea, Rhizo... |
OMIM:228520 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Nemaline bodies, Bulbous nose, Flexion contracture, Short statur... |
OMIM:616549 |
| Alagille Syndrome |
|
Telangiectasia of the skin, Long nose, Ventricular septal defect, Hypoplasia of the ulna, Keratoc... |
ORPHA:52 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Short nose, Intrauterine growth... |
OMIM:616897 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Atrioventricular canal defect, Short neck, Tapered finger, Sh... |
ORPHA:251071 |
| Down Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Sandal gap, Brushfield spots, Double ou... |
OMIM:190685 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
| Axial Spondylometaphyseal Dysplasia |
|
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... |
ORPHA:168549 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Delayed skeletal maturation, Sensorineural hearing impairment, Sho... |
ORPHA:2326 |
| Diabetic Embryopathy |
|
Vertebral segmentation defect, Microtia, Micrognathia, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Disproportionate short-limb short stature, Hypoplastic left heart, Decreased... |
ORPHA:2772 |
| Frontometaphyseal Dysplasia |
|
Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Progressive bowi... |
ORPHA:1826 |
| Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bif... |
OMIM:136760 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Craniosynostosis, Hemivertebrae, Short neck, Short nose, Sacral dimple, Sprenge... |
OMIM:213980 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic abnormalities,... |
OMIM:606612 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Hemiverte... |
OMIM:268310 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Abnormal helix morphology, Overfolded helix, Depressed nasal bridge, Microg... |
ORPHA:1913 |
| Acromesomelic Dysplasia 2A |
|
Disproportionate short-limb short stature, Flexion contracture, Short femur, Hypoplasia of the ra... |
OMIM:200700 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defect, Block verte... |
OMIM:306955 |
| Microphthalmia, Syndromic 3 |
|
Sensorineural hearing impairment, Rib fusion, Butterfly vertebrae, Supernumerary ribs, Bilateral ... |
OMIM:206900 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
| Noonan Syndrome |
|
Abnormal pulmonary valve morphology, Thickened helices, Enlarged thorax, Pectus excavatum, Aplasi... |
ORPHA:648 |
| Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Platyspondyly, Disproportio... |
OMIM:253010 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped ep... |
ORPHA:240 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
| Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Bulbous nose, Bicuspid aortic ... |
ORPHA:96169 |
| 8Q24.3 Microdeletion Syndrome |
|
Pectus excavatum, Atrioventricular canal defect, Broad nasal tip, Congenital hip dislocation, Sho... |
ORPHA:508488 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Atrial septal defect, Abnormal rib cage morphology, Short stature, Hemivertebra... |
OMIM:608406 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Broad nasal tip, Short neck, Pectus carinatum, Disproportionate short-trunk short stature, Short ... |
OMIM:272460 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Limitation of joint mobility, Microtia, Depressed nasal bridge, ... |
ORPHA:254519 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Broad nasal tip, Microcornea, R... |
OMIM:300166 |
| Gorlin Syndrome |
|
Abnormality of the sense of smell, Hemivertebrae, Vertebral fusion, Arachnodactyly, Scoliosis, Br... |
ORPHA:377 |
| Mucopolysaccharidosis, Type Iva |
|
Pointed proximal second through fifth metacarpals, Prominent sternum, Anterior beaking of lumbar ... |
OMIM:253000 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Genu valgum, Partial fusio... |
OMIM:305620 |
| Cantú Syndrome |
|
Accelerated skeletal maturation, Short neck, Platyspondyly, Broad ribs, Ovoid vertebral bodies, U... |
ORPHA:1517 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Vertebral segmentation defect, Butterfly vertebrae, Talipes equinovarus, Microtia, Small hand, Le... |
OMIM:611209 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Depressed nasal bridge, Ventricular septal defect, Double outlet right ventricle, Peripheral pulm... |
ORPHA:163956 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Disproportionate short-... |
ORPHA:174 |
| Robinow Syndrome |
|
Tricuspid atresia, Broad nasal tip, Depressed nasal bridge, Hemivertebrae, Ventricular septal def... |
ORPHA:97360 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Short neck, Crumpled ear, Pectus carinatum, Ulnar deviation of finger, Ventricular se... |
OMIM:121050 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Intrinsic hand muscle atrophy, Muscular ventricular septal defect, Tapered finger, Short 3rd meta... |
OMIM:618569 |
| Kyphomelic Dysplasia |
|
Narrow chest, Joint stiffness, Lateral clavicle hook, Undulate ribs, Micrognathia, Anterior rib c... |
ORPHA:1801 |
| Microcephaly-Micromelia Syndrome |
|
Narrow chest, Forearm undergrowth, Convex nasal ridge, Talipes equinovarus, Craniosynostosis, Mic... |
OMIM:251230 |
| Achondrogenesis Type 1A |
|
Narrow chest, Recurrent fractures, Severe short stature, Multiple rib fractures, Thickened nuchal... |
ORPHA:93299 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Micrognathia, Brachydactyly, Coarctation o... |
ORPHA:2209 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Micromelia, Pectus carinatum, Upper limb undergrowth, Hypoplastic pelvis, Genu val... |
ORPHA:93351 |
| Feingold Syndrome Type 1 |
|
Tricuspid atresia, Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly ... |
ORPHA:391641 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Abnormal vertebral segmentation and fusion, Short neck, Brachydac... |
OMIM:244600 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Narrow chest, Kyphoscoliosis, Hypoplastic vertebral bodies, Pectus excavat... |
OMIM:263540 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Recurrent otitis media, Short stature, Broad nasal tip, Long nose, Depressed nasal bridge, Dextro... |
OMIM:619995 |
| Restrictive Dermopathy 1 |
|
Depressed nasal bridge, Decreased calvarial ossification, Ankylosis, Spontaneous chorioamniotic s... |
OMIM:275210 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Mucopolysaccharidosis Type 4 |
|
Short neck, Platyspondyly, Pectus carinatum, Genu valgum, Abnormal epiphysis morphology, Bowing o... |
ORPHA:582 |
| Barth Syndrome |
|
Tricuspid regurgitation, Arrhythmia, Abnormal mitochondrial morphology, Increased left ventricula... |
OMIM:302060 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... |
ORPHA:99094 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... |
OMIM:610017 |
| Kniest Dysplasia |
|
Enlarged joints, Pectus excavatum, Depressed nasal bridge, Short neck, Platyspondyly, Disproporti... |
OMIM:156550 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
| Slc35A2-Cdg |
|
Sensorineural hearing impairment, Talipes equinovarus, Coxa valga, Short stature, Thickened nucha... |
ORPHA:356961 |
| Roifman Syndrome |
|
Irregular vertebral endplates, Hip contracture, Recurrent otitis media, Clinodactyly of the 5th f... |
OMIM:616651 |
| Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Ventricular septal defect, Iridodonesis, Broad ribs, Cataract, Umbilical ... |
OMIM:608328 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Short stature, Patent ductus arteriosus, Pro... |
OMIM:614886 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Abnormal left ventricular function, Macroglossia, Thigh hypertrophy, Calf muscle hypert... |
OMIM:607155 |
| Trisomy 13 |
|
Narrow chest, Kyphosis, Abnormal antihelix morphology, Sensorineural hearing impairment, Atrial s... |
ORPHA:3378 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma, Absent tibia |
ORPHA:1757 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Hypoplastic vertebral bodies, Clinodactyly of the 5th fi... |
ORPHA:2916 |
| Schneckenbecken Dysplasia |
|
Short neck, Nonimmune hydrops fetalis, Platyspondyly, Short nose, Ovoid vertebral bodies, Umbilic... |
OMIM:269250 |
| Cartilage-Hair Hypoplasia |
|
Abnormal cardiac septum morphology, Accelerated skeletal maturation, Depressed nasal ridge, Abnor... |
ORPHA:175 |
| Kniest-Like Dysplasia, Lethal |
|
Abnormal pinna morphology, Short neck, Platyspondyly, Rhizomelia, Broad ribs, Dumbbell-shaped lon... |
OMIM:245190 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Weakness of facial musculature, Short neck, Down-sloping shoulders, ... |
OMIM:265000 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent otitis media |
OMIM:618254 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Osteogenesis Imperfecta |
|
Abnormality of femur morphology, Pectus excavatum, Osteopenia, Femoral bowing, Biconcave vertebra... |
ORPHA:666 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Atrioventricular canal defect, Depressed nasal bridge, Hemivert... |
ORPHA:7 |
| Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Butterfly vertebrae, Hypoplastic left heart, Vertebral clefting, M... |
OMIM:301043 |
| Ververi-Brady Syndrome |
|
Metaphyseal irregularity, Bulbous nose, Clinodactyly of the 5th finger, Short stature, Broad nasa... |
OMIM:617982 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia, Truncus arteriosus |
OMIM:206700 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Convex nasal ridge, Abnormal clavicle morphology, Short stature, Abno... |
ORPHA:2522 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Uni... |
OMIM:173800 |
| Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Conductive hearing impairment, Anomalous pulmonary venous return, ... |
ORPHA:244 |
| Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... |
ORPHA:2098 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Prominent sternum, Broad nasal tip, Depressed nasal bridge, Short neck, Platyspondyly, Cone-shape... |
OMIM:300232 |
| Codas Syndrome |
|
Delayed skeletal maturation, Sensorineural hearing impairment, Coronal cleft vertebrae, Short met... |
ORPHA:1458 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Pectus excavatum, Broad nasal tip, Hypoplasia of the capital femoral epiphysis, Rhizomelia, Genu ... |
OMIM:601560 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Abnormality of finger, Atrial septal defect, Abnormality of the humeru... |
ORPHA:2538 |
| Endosteal Hyperostosis, Worth Type |
|
Sensorineural hearing impairment, Clavicular sclerosis, Abnormal form of the vertebral bodies, Ab... |
ORPHA:2790 |
| Dilated Cardiomyopathy With Ataxia |
|
Bilateral sensorineural hearing impairment, Muscular ventricular septal defect, Diaphragmatic eve... |
ORPHA:66634 |
| Distal Monosomy 15Q |
|
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... |
ORPHA:1596 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Short neck, Microcornea, Skeletal muscle atrophy, Hypoplastic iris stro... |
ORPHA:233 |
| Kagami-Ogata Syndrome |
|
Diastasis recti, Kyphoscoliosis, Atrial septal defect, Flexion contracture, Thin ribs, Pulmonic s... |
OMIM:608149 |
| Diamond-Blackfan Anemia 7 |
|
Sprengel anomaly, Secundum atrial septal defect, Osteopenia, Scoliosis, Osteoporosis, Tetralogy o... |
OMIM:612562 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Sensorineural hearing impairment, Conductive h... |
OMIM:118100 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Abnormality of the mitochondrion, Hypertrophic cardiomyopathy, Low-output congestive heart failure |
ORPHA:91130 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... |
OMIM:609616 |
| Alkaptonuria |
|
Kyphosis, Aortic valve calcification, Intervertebral disc degeneration, Mitral valve calcificatio... |
OMIM:203500 |
| 3M Syndrome |
|
Bulbous nose, Short neck, Congenital hip dislocation, Micromelia, Hypoplasia of the ulna, Hypopla... |
ORPHA:2616 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
| Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Platyspondyly, Abnormality of the ankles, Pectus carinatum, Dispr... |
ORPHA:239 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Short stature, Tetralogy of Fallot, Pulmonary arte... |
OMIM:612946 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pectus excavatum, Depressed nasal bridge, Short neck, Ventricular septal defect, Umbilical hernia... |
OMIM:612582 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Slender finger, Muscular ventricular septal defect, Depressed nasal bridge, Tapered finger, Ventr... |
OMIM:619503 |
| Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Sandal gap, Bowing of the long bones, Short long bone, Elbow dislocation,... |
ORPHA:1106 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Thin ribs, Long clavicles, Coronal craniosynostosis, Contracture of the distal i... |
ORPHA:83617 |
| White Forelock With Malformations |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Low-set, posteriorly rota... |
ORPHA:2475 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Abnormal helix morphology, Accelerated skeletal maturation, Aplasia/Hypoplasia ... |
ORPHA:373 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... |
ORPHA:1836 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Kapur-Toriello Syndrome |
|
Conductive hearing impairment, Bulbous nose, Atrial septal defect, Joint contracture of the hand,... |
OMIM:244300 |
| Larsen Syndrome |
|
Pectus excavatum, Depressed nasal bridge, Talipes equinovalgus, Pectus carinatum, Ventricular sep... |
OMIM:150250 |
| Acromesomelic Dysplasia 4 |
|
Broad phalanx, Prominent sternum, Accelerated skeletal maturation, Platyspondyly, Broad finger, R... |
OMIM:619636 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, 2-3 toe syndactyly, Mitral regurgitation, Scoliosis, T... |
ORPHA:313892 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Iris coloboma, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusi... |
OMIM:613702 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Barrel-shaped chest, Short ... |
OMIM:200600 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ... |
OMIM:608940 |
| Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
| Noonan Syndrome 12 |
|
Spinal canal stenosis, Pectus excavatum, 11 pairs of ribs, Tetralogy of Fallot, Ventricular septa... |
OMIM:618624 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Narrow chest, Thoracic scoliosis, Talipes equinovarus, Overriding aorta, Adducted th... |
OMIM:617022 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Split foot, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601348 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Abnormal pinna morphology, Depressed nasal bridge, Decreased calvarial ossification, Short neck, ... |
OMIM:617925 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
| Mucopolysaccharidosis, Type Vi |
|
Prominent sternum, Depressed nasal bridge, Pectus carinatum, Disproportionate short-trunk short s... |
OMIM:253200 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Depre... |
OMIM:300863 |
| Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Hypoplasia of the semicircular canal, Dilated vestibule of the ... |
OMIM:611584 |
| Prune Belly Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Atrial septal defect, Talipes equinovarus, Conge... |
ORPHA:2970 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... |
OMIM:249700 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| 3Q29 Microdeletion Syndrome |
|
Pectus excavatum, Clinodactyly of the 5th finger, Pectus carinatum, Tapered finger, Six lumbar ve... |
ORPHA:65286 |
| 22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Depressed nasal ridge, Micrognathia, Scoliosis, Tetralogy of Fallot, Vent... |
ORPHA:1727 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Pectus excavatum, Short stature, Cup... |
ORPHA:52055 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the radius, Hemivertebrae, Short neck, Rudimentary fi... |
ORPHA:958 |
| Mosaic Trisomy 20 |
|
Spinal canal stenosis, Abnormal mitral valve morphology, Vertebral segmentation defect, Kyphosis,... |
ORPHA:1724 |
| Fanconi Anemia, Complementation Group I |
|
Conductive hearing impairment, Atrial septal defect, Absent thumb, Short stature, Hypoplasia of t... |
OMIM:609053 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short stature, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Short middle phalanx... |
OMIM:309620 |
| Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
| Trichohepatoenteric Syndrome 1 |
|
Depressed nasal ridge, Short stature, Pulmonic stenosis, Microtia, Avascular necrosis of the capi... |
OMIM:222470 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Hypertrophic cardiomyopathy |
OMIM:610773 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Pectus excavatum, Secundum atrial septal defect, Clinodactyly of the 5th finger, Toe clinodactyly... |
OMIM:619910 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused ... |
OMIM:618469 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Short stature, Stenosis of the external auditory canal, Depressed ... |
ORPHA:1513 |
| Wildervanck Syndrome |
|
Congenital sensorineural hearing impairment, Lens subluxation, Short neck, Fused cervical vertebr... |
ORPHA:3456 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Bulbous nose, Atrial septal defect, Flexion contracture, Cupped ear, Tachycardia, Tapered finger,... |
OMIM:613870 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur... |
OMIM:151200 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Pectus excavatum, Depressed nasal bridge, Aortic tortuosity, Pulmonar... |
OMIM:619472 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Radioulnar synostosis, Ventricular septal defect, Delayed skeletal mat... |
OMIM:194190 |
| Digeorge Syndrome |
|
Abnormality of the middle ear, Short stature, Intervertebral disc degeneration, Micrognathia, Sco... |
OMIM:188400 |
| Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Disproportionate short-limb short stature, Broad long bones, Convex nasal ri... |
OMIM:166210 |
| Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Short neck, Anencephaly, Bowing of the long bones, Intrauteri... |
OMIM:249000 |
| Holt-Oram Syndrome |
|
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Ventricular septal... |
OMIM:142900 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal antihelix morphology, Kyphosis, Conductive hearing impairment, Clinodactyly of the 5th f... |
ORPHA:3082 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Short stature, Micrognathia, Short tibia, 11 pairs of ribs,... |
OMIM:201170 |
| Juberg-Hayward Syndrome |
|
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Scoliosis, Radioulnar syno... |
ORPHA:2319 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Stapes ankylosis, Conductive hearing impairment, Congenital stape... |
OMIM:184460 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... |
OMIM:270100 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Mosaic Trisomy 14 |
|
Narrow chest, Microtia, Micrognathia, Camptodactyly of finger, Short neck, Low-set, posteriorly r... |
ORPHA:1703 |
| Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Ventricular septal defect, Broad ribs, Cataract, Proportionate short stat... |
OMIM:277600 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Overfolded helix, Hemivertebrae, Arachnodactyly, Joint hyperflexi... |
ORPHA:2759 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis,... |
OMIM:143095 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Scoliosis, Brachydactyly, Fused cervical vertebrae, Short middle phalanx of finger... |
ORPHA:1436 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck, Platyspondyly... |
ORPHA:1427 |
| Frontometaphyseal Dysplasia 2 |
|
Abnormal pinna morphology, Pectus excavatum, Broad nasal tip, Depressed nasal bridge, Congenital ... |
OMIM:617137 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Posterior embryotoxon, Te... |
OMIM:617992 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Bulbous nose, Congenital diaphragmatic hernia, Hemivertebrae, Sh... |
ORPHA:1780 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sprengel anomaly, Bulbous nose, Depressed nasal bridge, Hemivertebrae, Scoliosis, Abnormal form o... |
ORPHA:2180 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dilated cardiomyopathy, Arrhythmia, Decreased mitochondrial number |
ORPHA:352447 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal pinna morphology, Femoral bowing, Short neck, Platyspondyly, 11 pairs of ribs, Long foot... |
OMIM:210710 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number |
ORPHA:352470 |
| Limb Body Wall Complex |
|
Lens subluxation, Depressed nasal bridge, Aplasia of the proximal phalanges of the hand, Anenceph... |
ORPHA:2369 |
| Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal iliac wing morpholog... |
ORPHA:3027 |
| 3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, 2-3 finger syndactyly, Tapered finger, Ventricular septal defect, Broad h... |
ORPHA:435638 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Narrow chest, Atrial septal defect, Lateral clavicle hook, Tricuspid regurgitation, Short ribs, P... |
OMIM:263520 |
| Kbg Syndrome |
|
Rib fusion, Protruding ear, Clinodactyly of the 5th finger, Ulnar deviation of the 2nd finger, Sh... |
OMIM:148050 |
| Melnick-Needles Syndrome |
|
Narrow chest, Abnormal cardiac septum morphology, Short clavicles, Cone-shaped epiphyses of the p... |
ORPHA:2484 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
| Fibrodysplasia Ossificans Progressiva |
|
Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ... |
OMIM:135100 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Asymmetric Short Stature Syndrome |
|
Convex nasal ridge, Micrognathia, Lumbar scoliosis, Fused cervical vertebrae, Asymmetric short st... |
OMIM:108450 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Bulbous nose, Talipes equinovarus, Macroglossia, Depressed nasal bridge, Short neck, Coloboma, Tr... |
OMIM:616789 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Accelerated skeletal maturation, Craniosynost... |
OMIM:250215 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Amniotic constriction ring, Short stature, Abnormal hip bone morphology, Mic... |
ORPHA:1486 |
| Orofaciodigital Syndrome Xvii |
|
Short stature, Partial duplication of thumb phalanx, Prominent metopic ridge, Short neck, Short m... |
OMIM:617926 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aorti... |
OMIM:619698 |
| Mucopolysaccharidosis Type 6 |
|
Joint stiffness, Kyphosis, Epiphyseal dysplasia, Macroglossia, Recurrent upper respiratory tract ... |
ORPHA:583 |
| Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus art... |
ORPHA:79094 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Finger joint hypermobility, Anomalous branches of internal carotid artery, Depressed nasa... |
ORPHA:363705 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Renpenning Syndrome |
|
Sprengel anomaly, Joint stiffness, Sensorineural hearing impairment, Pectus excavatum, Severe sho... |
ORPHA:3242 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Rib fusion... |
OMIM:609813 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Mosaic Trisomy 9 |
|
Bulbous nose, Hemivertebrae, Short neck, Micromelia, Finger clinodactyly, Ventricular septal defe... |
ORPHA:99776 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplastic nasal septum, Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defect, Micro... |
ORPHA:40366 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology, Coarctation of aorta, Ethmoidal encephalo... |
ORPHA:280195 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short stature, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia... |
OMIM:612447 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Micrognathia, Anencephaly, Low... |
ORPHA:1908 |
| Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Short stature, Tetralogy of Fallot, Short nose, Sandal gap, Ventricular hyp... |
OMIM:300887 |
| Ivic Syndrome |
|
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... |
OMIM:147750 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Depress... |
ORPHA:2756 |
| Giant Cell Arteritis |
|
Joint stiffness, Conductive hearing impairment, Double outlet right ventricle with subpulmonary v... |
ORPHA:397 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Conductive hearing impairment, Protruding ear, Clinodactyly of the 5th finger, Arachnodactyly, Te... |
OMIM:602249 |
| De Barsy Syndrome |
|
Pectus excavatum, Osteopenia, Congenital hip dislocation, Ventricular septal defect, Cataract, Um... |
ORPHA:2962 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Low-set ears, Sensorineural hearing impairment, Lumbar hyperlord... |
OMIM:617796 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Delayed proximal femoral epiphyseal ossification, Short neck, Platyspondyly, 11 pairs of ribs, Ve... |
OMIM:271640 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Hypoplasia of the ulna, Short nose, ... |
ORPHA:3258 |
| Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Anomalous pulmonary venous return, Short stature, Tracheomalacia... |
OMIM:616368 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge, Short neck, Platyspon... |
OMIM:250220 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Pectus excavatum, Femoral bowing, Platyspondyly, Micromelia, Ovoid vertebral bodies, Small epiphy... |
OMIM:608728 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Symphalangism affecting t... |
ORPHA:2990 |
| Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Absent thumb, Hand oligodactyly, Hypopl... |
OMIM:156810 |
| Autosomal Recessive Robinow Syndrome |
|
Pectus excavatum, Depressed nasal bridge, Short neck, Pectus carinatum, Ventricular septal defect... |
ORPHA:1507 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Anterior polar cataract, Genu valgum, Irregular iliac crest, Short long bone, Meta... |
OMIM:250420 |
| Recombinant 8 Syndrome |
|
Low-set ears, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Clinodactyly o... |
ORPHA:96167 |
| Sprengel Deformity |
|
Sprengel anomaly, Neck muscle hypoplasia, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, S... |
OMIM:184400 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect, Wide nose, Hearing impairment,... |
ORPHA:251076 |
| Hurler Syndrome |
|
Angina pectoris, Abnormal clavicle morphology, Depressed nasal bridge, Short neck, Abnormal epiph... |
ORPHA:93473 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Joint stiffness, Kyphosis, Beaking of vertebral bodies, Severe short stature, Hyp... |
OMIM:230500 |
| Mungan Syndrome |
|
Pulmonic stenosis, Tricuspid regurgitation, Perimembranous ventricular septal defect |
OMIM:611376 |
| Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Ventricular septal defect, Broad h... |
OMIM:154400 |
| Kapur-Toriello Syndrome |
|
Bulbous nose, Retinal coloboma, Short neck, Tetralogy of Fallot, Ventricular septal defect, Atres... |
ORPHA:2328 |
| Orofaciodigital Syndrome Viii |
|
Short stature, Broad nasal tip, Short tibia, Syndactyly, Polydactyly, Bifid nasal tip |
OMIM:300484 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
| Leopard Syndrome 3 |
|
Sensorineural hearing impairment, Abnormal mitral valve morphology, Short stature, Depressed nasa... |
OMIM:613707 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Pectus excavatum, Clinodactyly of the 5th finger, Abnormal rib cage morphology, Microtia, Down-sl... |
OMIM:227330 |
| Doors Syndrome |
|
Bulbous nose, Broad nasal tip, Hemivertebrae, Cutaneous syndactyly, 11 pairs of ribs, Sirenomelia... |
ORPHA:79500 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Hypoplastic nasal septum, Short sternum, Clinodactyly of the 4th toe, Bilateral... |
OMIM:186500 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Timothy Syndrome |
|
Depressed nasal bridge, Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal... |
OMIM:601005 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Thin anteverted nares, Abnormal cardiac ventricle morphology, Aortic valve... |
ORPHA:2306 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Disproportionate short-limb short stature, Kyphosis, Pectus excavatum, Decre... |
OMIM:259440 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
| Trisomy 1Q |
|
Microretrognathia, Congenital diaphragmatic hernia, Arachnodactyly, Depressed nasal bridge, Campt... |
ORPHA:261344 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormal antihelix morphology, Convex nasal ridge, Short stature, Craniosynostosis, Microtia, Mic... |
ORPHA:2145 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Scoliosis, Amelia, Anterior encephalocele, Ventricular septal defect, Coloboma, Low-... |
OMIM:601357 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Depressed nasal ridge, Short stature, Thin ribs, Micrognathia, Platyspondyly, Metaphyseal cupping... |
ORPHA:163966 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Dislocated radial head, Metaphyseal irregularity, Knee dislocation... |
OMIM:618395 |
| C Syndrome |
|
Micromelia, Ulnar deviation of finger, Ventricular septal defect, Short nose, Delayed skeletal ma... |
OMIM:211750 |
| Apert Syndrome |
|
Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Rhizomelic arm shortening, Pectus... |
OMIM:101200 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Scoliosis, Ovoid t... |
OMIM:252900 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Aphalangy With Hemivertebrae |
|
Aplasia of the phalanges of the toes, Hemivertebrae, Ventricular septal defect, Aphalangy of hand... |
OMIM:207620 |
| Grant Syndrome |
|
Sprengel anomaly, Narrow chest, Joint dislocation, Short stature, Abnormality of the glenoid foss... |
ORPHA:2097 |
| Elliptocytosis 3 |
|
