| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Arachnodactyly, Redundant skin, Emphysema, ... |
ORPHA:171719 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Cutis laxa, Arachnodactyly, Emphysema, Hip dislocation, Abnormal... |
OMIM:614100 |
| 8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
| Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Upper limb undergrowth, Tetralogy of Fallot, Omphalocele, Lower ... |
OMIM:613630 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Vertebral segmentation defect, Bicuspid aortic valve, Anomalous p... |
ORPHA:1120 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t... |
ORPHA:1143 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Uni... |
OMIM:173800 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Abnormal hip bone morphology, Res... |
ORPHA:1166 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Anomalous pulmonary venous return, Congenita... |
ORPHA:2311 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Hemivertebrae, Spina bifida occulta, Situs inversus to... |
OMIM:613686 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Spinal rigidity, Flexion contracture, Pallor, EMG: myopathic abnormalities, Muscular dystrophy, P... |
OMIM:608423 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Camptodactyly of finger, Respirato... |
ORPHA:1488 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Craniofrontonasal Dysplasia |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Congenital diaphragmatic hern... |
ORPHA:1520 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... |
OMIM:187601 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Narrow greater sciatic notch, Metaphyseal w... |
OMIM:263210 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Pectus excavatum, Atrial septal defect, Congenital diaphr... |
ORPHA:2847 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Craniorachischisis |
|
Bifid sternum, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63260 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Thigh hypertrophy, Left ventricular ... |
ORPHA:86812 |
| Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Preaxial hand polydactyly, Broad hallux phalanx, Postaxial hand ... |
ORPHA:380 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium |
OMIM:615524 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Scoliosis, Camptodactyly, Thoracic hy... |
OMIM:619751 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Narrow chest, Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Posta... |
OMIM:617895 |
| Acro-Renal-Mandibular Syndrome |
|
Sprengel anomaly, Kyphosis, Butterfly vertebrae, Abnormal clavicle morphology, Congenital diaphra... |
ORPHA:958 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, Pectus excavatum, EMG: myopathic abnormalities, Diap... |
OMIM:614399 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Bronchiecta... |
OMIM:618254 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
| Trisomy 1Q |
|
Congenital diaphragmatic hernia, Arachnodactyly, Camptodactyly of finger, Hydrops fetalis, Ventri... |
ORPHA:261344 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
| Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
| Xp22.13P22.2 Duplication Syndrome |
|
2-3 toe syndactyly, Pectus excavatum, Congenital diaphragmatic hernia, Small hand, Short neck, Sc... |
ORPHA:284180 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Pectus excavatum, Weakness of facial musculature, Increased variabil... |
ORPHA:536516 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... |
OMIM:601376 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
| Pentalogy Of Cantrell |
|
Abnormal sternum morphology, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal peri... |
ORPHA:1335 |
| Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
| Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
| Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Congenital diaphragmatic hern... |
OMIM:301022 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Abnormality of the diaphragm, Sy... |
OMIM:601163 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Dextrocardia, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
| Ciliary Dyskinesia, Primary, 7 |
|
Reduced FEV1/FVC ratio, Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Ciliary dy... |
OMIM:611884 |
| Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
| Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
| Arterial Tortuosity Syndrome |
|
Pectus excavatum, Aortic valve stenosis, Hiatus hernia, Flexion contracture, Congenital diaphragm... |
OMIM:208050 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
| Emanuel Syndrome |
|
Multiple joint contractures, Kyphoscoliosis, Aortic valve stenosis, Atrial septal defect, Congeni... |
ORPHA:96170 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... |
OMIM:606842 |
| Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Inguinal hernia, Postaxial hand po... |
ORPHA:36 |
| Emanuel Syndrome |
|
Kyphosis, Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal ... |
OMIM:609029 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele |
ORPHA:2143 |
| Poland Syndrome |
|
Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, S... |
ORPHA:2911 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
| Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Prominent sternum, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Aplasia/Hypoplasia... |
ORPHA:141152 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Metacarpophalangeal joint hyperextensibility, Short neck, 11 pairs of ribs, Platyspondyly, Pectus... |
OMIM:245600 |
| 15Q24 Microdeletion Syndrome |
|
Kyphosis, Abnormality of toe, Congenital diaphragmatic hernia, Small hand, Brachydactyly, Scolios... |
ORPHA:94065 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Rib fusion, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morpholo... |
ORPHA:261197 |
| Vacterl/Vater Association |
|
Vertebral segmentation defect, Abnormal cardiac septum morphology, Congenital diaphragmatic herni... |
ORPHA:887 |
| Coffin-Lowry Syndrome |
|
Drumstick terminal phalanges, Uterine prolapse, Kyphosis, Pectus excavatum, Inguinal hernia, Cuti... |
OMIM:303600 |
| Lethal Recessive Chondrodysplasia |
|
Narrow chest, Respiratory distress, Macroglossia, Polyhydramnios, Edema, Flared elbow metaphyses,... |
ORPHA:1423 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... |
ORPHA:70589 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Brachydactyly, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:300978 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:604377 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Broad 2nd toe, Arachnodactyly, Camptodactyly... |
ORPHA:1692 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... |
OMIM:122600 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
| Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Short neck, ... |
OMIM:265000 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Pulmonic stenosis, Hydrops... |
ORPHA:2414 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
| Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Congenital diaphragmatic hernia, Short neck, Scoliosis, Abnormal f... |
ORPHA:1834 |
| Achondrogenesis, Type Ib |
|
Narrow chest, Inguinal hernia, Short ribs, Hypoplastic ilia, Respiratory insufficiency, Hydrops f... |
OMIM:600972 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Pectus excavatum, Congenital diaphragmatic hernia, Inguinal hernia, Cutis laxa, Arachnodactyly, R... |
OMIM:219100 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Pectus c... |
OMIM:184260 |
| Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Hypoplastic pelvis, Abnormal epiph... |
ORPHA:2092 |
| Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Pectus excavatum, Congenital diaphragmatic hernia, Inguinal h... |
OMIM:614294 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pectus excavatum, Atrial septal defect, Congenital diaphragmatic hernia, Arachnodactyly, Finger c... |
OMIM:617602 |
| Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
| Catel-Manzke Syndrome |
|
Pectus excavatum, Clinodactyly of the 5th finger, Hyperphalangy of the 2nd finger, Inguinal herni... |
OMIM:616145 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Kyphoscoliosis, Abnormal muscle fiber morphology, Short ri... |
ORPHA:1145 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Short clavicles, Congenital diaphragmatic hernia, Absent thumb, Hypoplastic pelvis, Hypoplastic s... |
OMIM:618022 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... |
OMIM:619313 |
| Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia |
ORPHA:139466 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Umbilical hernia, Pneumonia |
OMIM:254120 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops feta... |
OMIM:617300 |
| Czeizel-Losonci Syndrome |
|
Ectrodactyly, Split foot, 2-3 finger syndactyly, Aplasia of the left hemidiaphragm, Spina bifida ... |
ORPHA:2437 |
| Donnai-Barrow Syndrome |
|
Short sternum, Congenital diaphragmatic hernia, Diaphragmatic eventration, Ventricular septal def... |
OMIM:222448 |
| Proximal 16P11.2 Microduplication Syndrome |
|
Arachnodactyly, Hemivertebrae, Scoliosis, Congenital diaphragmatic hernia |
ORPHA:370079 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Atrial septal defect, Congenital diaphragmatic hernia, Short ribs, Postaxial polyda... |
OMIM:616546 |
| 8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Congenital diaphragm... |
ORPHA:251071 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Ab... |
ORPHA:66637 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
| Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture, Death in childhood, Umbili... |
OMIM:618651 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
| Ciliary Dyskinesia, Primary, 25 |
|
Sinusitis, Chronic pulmonary obstruction, Situs inversus totalis, Dextrocardia, Recurrent sinusit... |
OMIM:615482 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia, Metatarsal osteolysis, Carpal osteolysis, Osteolysis involving t... |
OMIM:166300 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Situs inversus totalis, Dext... |
OMIM:615067 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Finger joint hypermobility, Pectus carinatum, Ventricular septal defect, Ca... |
ORPHA:363705 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
| Kniest Dysplasia |
|
Respiratory distress, Pectus excavatum, Short neck, Platyspondyly, Hypoplastic pelvis, Umbilical ... |
OMIM:156550 |
| Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Kyphosis, Congenital diaphragmatic hernia, Brachydactyly, Sco... |
ORPHA:2075 |
| Odontochondrodysplasia |
|
Narrow chest, Respiratory distress, Dentinogenesis imperfecta, Cone-shaped epiphysis, Platyspondy... |
ORPHA:166272 |
| Zaki Syndrome |
|
Ectrodactyly, Congenital diaphragmatic hernia, Hypoplasia of the phalanges of the toes, Broad dis... |
OMIM:619648 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Coronary-pulmonary artery fistula, Pectus excavatum, Patent fora... |
OMIM:619699 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Myopathy |
ORPHA:91130 |
| Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Abnormal sternum morphology, Atrial septal defect, Short ribs, Ventricular ... |
ORPHA:2519 |
| Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Camptodactyly of finger, Dextrocardia, Missing ribs, Abnormal tricuspi... |
ORPHA:1759 |
| Rheumatic Fever |
|
Abnormal mitral valve morphology, Sinusitis, Pallor, Aplasia/Hypoplasia of the abdominal wall mus... |
ORPHA:3099 |
| Acrorenal-Mandibular Syndrome |
|
Narrow chest, Kyphoscoliosis, Butterfly vertebrae, Congenital diaphragmatic hernia, Thin ribs, Sp... |
OMIM:200980 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Vertebral segmentation defect, Pectus excavatum, Congenital diaphragmatic hernia, 3-4 finger cuta... |
OMIM:612530 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Ventricular... |
OMIM:613309 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, An... |
ORPHA:100057 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Myopathy |
ORPHA:26792 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Diaphanospondylodysostosis |
|
Vertebral segmentation defect, Respiratory distress, Increased nuchal translucency, Inguinal hern... |
OMIM:608022 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased variability in muscle fiber diameter, ... |
ORPHA:238329 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Congen... |
OMIM:618454 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis, Distal amyotrophy |
OMIM:619099 |
| Congenital Laryngeal Web |
|
Respiratory distress, Abnormal cardiac septum morphology, Stridor |
ORPHA:2374 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cor pulmonale, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 2 muscle fiber atrop... |
OMIM:605809 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Hemivertebrae, Abnormal for... |
ORPHA:2759 |
| Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Pulmonic stenosis, Single... |
OMIM:601186 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
| American Trypanosomiasis |
|
Pallor, Myocarditis, Cough, Edema, Periorbital edema, Dyspnea, Cardiomyopathy |
ORPHA:3386 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor, Hypertrophic cardiomyopathy |
OMIM:612989 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Weakness of facial musculature, Pelvic girdle muscle weakness, Weakness of ... |
ORPHA:2596 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Apneic epi... |
OMIM:254210 |
| 13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Congenital diaphragmatic hernia, Upper eyelid edema, Camptodactyly, Hip dysplasia... |
ORPHA:412035 |
| Simpson-Golabi-Behmel Syndrome |
|
Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital hip dislocatio... |
ORPHA:373 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Kyphosis, Platyspondyly |
ORPHA:2786 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... |
OMIM:618901 |
| Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Dyspnea |
ORPHA:228312 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Secundum atrial septal defect, Tachypnea, Pneumothorax, Dextrocardia, Abnormal hem... |
ORPHA:2257 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Pallor, Atrial septal defect |
ORPHA:49827 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Sternum, Premature Obliteration Of Sutures Of |
|
Premature sternal synostosis, Short sternum |
OMIM:184800 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Right atrial enlargement, Pulmonary edema, Myofiber disarray, Muscular vent... |
OMIM:115197 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
| Seckel Syndrome 9 |
|
Asthma, Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Polyhyd... |
OMIM:616777 |
| Ciliary Dyskinesia, Primary, 38 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiectasis, Neonatal respirat... |
OMIM:618063 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
| Isolated Klippel-Feil Syndrome |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Sh... |
ORPHA:2345 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia |
OMIM:618948 |
| Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Joint contracture of the hand, Congenital diaphragmatic hernia, Short neck,... |
ORPHA:363528 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Abnormal cardiac septum morphology, Narrow chest, Clinodactyly of... |
ORPHA:2059 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Paradoxical re... |
OMIM:620011 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Congenital diaphragmatic hernia, Hemivertebrae, Short neck, Tetr... |
ORPHA:1780 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Situs inversus totalis, Dextrocardia, Ciliary dyskinesia, Bronch... |
OMIM:606763 |
| Ciliary Dyskinesia, Primary, 30 |
|
Asthma, Respiratory insufficiency due to defective ciliary clearance, Respiratory insufficiency, ... |
OMIM:616037 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Short long bone, Neonatal death, Anisospondyly, Bowing of the long bones, Thoracic hypoplasia |
OMIM:224410 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... |
OMIM:605676 |
| Thanatophoric Dysplasia, Type I |
|
Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for... |
OMIM:187600 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
| Limb Body Wall Complex |
|
Diastasis recti, Atrial septal defect, Congenital diaphragmatic hernia, Aplasia/Hypoplasia involv... |
ORPHA:2369 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Pallor, Short... |
OMIM:609053 |
| Acute Peripheral Arterial Occlusion |
|
Pallor, Limb muscle weakness |
ORPHA:90064 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Short neck, Respiratory failure |
ORPHA:1832 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Abnormal thorax morphology, Pleural effusion, Dyspnea, Abnormal resp... |
ORPHA:50251 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect |
OMIM:606217 |
| Fetal Alcohol Syndrome |
|
Vertebral segmentation defect, Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
| Craniofrontonasal Syndrome |
|
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Congenital diaphragmatic hern... |
OMIM:304110 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital diaphragmatic hernia, Congenital hip dislocation, Abno... |
ORPHA:1647 |
| Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Tracheomalacia, Hydrops fetalis, Ventricular septal defect, Bifi... |
ORPHA:268249 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... |
OMIM:614034 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Left ventricular hypertrophy, Oligohydramnios, Flexion contracture |
OMIM:616733 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Abnormal muscle glycogen content, Respiratory distress, Flexion contracture, Respiratory insuffic... |
ORPHA:367 |
| Trisomy 18 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal hip bone morphology, Camptodactyl... |
ORPHA:3380 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Metacarpophalangeal joint contracture, Inguina... |
ORPHA:544503 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respiratory failure, Cardiomegaly |
ORPHA:99931 |
| Dermatitis, Atopic |
|
Asthma, Pallor, Dry skin, Facial erythema, Allergic rhinitis |
OMIM:603165 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sprengel anomaly, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hern... |
OMIM:600001 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis |
OMIM:309620 |
| Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Rhinorrhea, Bronchiectasis |
OMIM:617577 |
| Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of femur morphology, Congenital diaphragmatic hernia, Inguinal hernia, Abnormality of... |
ORPHA:2063 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Scoliosis, Aplasia of the left hemidiaphragm |
OMIM:618238 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of t... |
OMIM:228940 |
| 2Q37 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Small hand, Short neck, Brachyda... |
ORPHA:1001 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Increased muscle glycogen content, Macroglossia, Respiratory failure requir... |
ORPHA:254864 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Transposition of the great arter... |
OMIM:313850 |
| Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Anomalous pulmonary venous return, Ventricular septal de... |
ORPHA:185 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic... |
ORPHA:2255 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Narrow chest, Abnormal cardiac septum morphology, Respiratory distress, Tracheomalacia, Short nec... |
OMIM:217980 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
| Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
| Ciliary Dyskinesia, Primary, 17 |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Ciliary dyskine... |
OMIM:614679 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Scoliosis, Clinodactyly |
OMIM:300934 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Situs inve... |
ORPHA:991 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Atrioventricular canal defect |
ORPHA:2409 |
| X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Respiratory distress, Weakness of facial musculature, Type 1 fib... |
ORPHA:596 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia |
OMIM:602361 |
| Hyperparathyroidism, Transient Neonatal |
|
Narrow chest, Respiratory distress, Thin ribs, Short ribs, Femoral bowing, Polyhydramnios |
OMIM:618188 |
| Aymé-Gripp Syndrome |
|
Clinodactyly of the 5th finger, Congenital diaphragmatic hernia, Inguinal hernia, Scoliosis, Tape... |
ORPHA:1272 |
| Right Atrial Isomerism |
|
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... |
OMIM:208530 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Rib fusion, Kyphosis, Atrial septal defect, Congenital diaphr... |
ORPHA:280 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis, Neonatal death, Neonatal respiratory distress, Pulmonary arterial hype... |
OMIM:619003 |
| Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Pectus excavatum, Acute infantile spinal muscular atrophy, Flexion contract... |
OMIM:271225 |
| Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Umbi... |
OMIM:618846 |
| White-Sutton Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Short neck, Brachydactyly, Broad thumb, Pa... |
OMIM:616364 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thrombocytopenia |
OMIM:617053 |
| Ciliary Dyskinesia, Primary, 22 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Dextrocardi... |
OMIM:615444 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Cornelia De Lange Syndrome 1 |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hiatus hernia, Congenital diaphragmatic h... |
OMIM:122470 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Pectus excavatum, Slender long bones with narr... |
ORPHA:536467 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow chest, Coxa vara, Respiratory distress, Narrow greater sciatic notch, Metaphyseal sclerosi... |
OMIM:260400 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
| Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
| Myoclonus, Intractable, Neonatal |
|
Pallor, Apnea |
OMIM:617235 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Dyspnea |
ORPHA:517 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Short neck, Ventral hernia, Facial hypotonia, O... |
ORPHA:468678 |
| Asbestos Intoxication |
|
Myocardial fibrosis, Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Exertion... |
ORPHA:2302 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, Tarsal synostosis, Abs... |
OMIM:618469 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Hiatus hernia, Myocarditis, Abnormal myocardium morphology, Rocker bottom f... |
ORPHA:3342 |
| Marden-Walker Syndrome |
|
Kyphosis, Abnormal sternum morphology, Joint contracture of the hand, Inguinal hernia, Arachnodac... |
OMIM:248700 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, Short neck, Ulnar deviation of finger, Ventricular septal defect, ... |
ORPHA:818 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Coxa vara, Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Delaye... |
OMIM:183900 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Camptodactyly of finger, Brachydactyly |
ORPHA:2863 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Pectus excavatum, Short sternum, 2-3 finger syndactyly, Pectus carinatum, Ventricular septal defe... |
OMIM:312870 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Thin ribs, Neonatal death, Polyhydramnios, Death in infancy, Centrally nucl... |
OMIM:300219 |
| Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia... |
OMIM:618280 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Respiratory distress, Apnea, Femoral bowing, Short 1st metaca... |
OMIM:114290 |
| Opitz Gbbb Syndrome |
|
Vertebral segmentation defect, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal he... |
ORPHA:2745 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63862 |
| 7Q11.23 Microduplication Syndrome |
|
Pectus excavatum, Aortic valve stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Atrial... |
ORPHA:96121 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Narrow chest, Cone-shaped epiphyses of the phalanges of the hand,... |
OMIM:617102 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... |
OMIM:306955 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Scoliosis, Death in infancy, Neonatal respiratory distress, Congenital cont... |
OMIM:615042 |
| Lethal Kniest-Like Dysplasia |
|
Narrow chest, Hypoplastic vertebral bodies, Atrial septal defect, Short ribs, Hypoplastic ilia, F... |
ORPHA:2347 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Hand muscle weakness, Right ventricular hypertrophy, Type 2 mu... |
ORPHA:98915 |
| Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
| Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Dyspnea |
ORPHA:75563 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough |
ORPHA:77260 |
| Fanconi Anemia, Complementation Group O |
|
Miscarriage, Absent thumb, Hypoplasia of the radius, Small thenar eminence, Neonatal death, Death... |
OMIM:613390 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Widening of cervical spinal canal, Abnormal thorax morphology |
OMIM:253310 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
| Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... |
ORPHA:95430 |
| Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Hypoplastic left ... |
ORPHA:3097 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Atrial septal defect, Hypoxemia, C... |
OMIM:610978 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Mogs-Cdg |
|
Respiratory distress, Apnea, Thoracic scoliosis, Atrial septal defect, Pulmonary edema, Left vent... |
ORPHA:79330 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Diaphragmatic eventration, 11 pairs of ribs, ... |
OMIM:620025 |
| Pseudoaminopterin Syndrome |
|
Overlapping toe, Pectus excavatum, Prominent sternum, Slender finger, Inguinal hernia, Postaxial ... |
ORPHA:221120 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, 2-3 toe syndactyly, Atrial septal defect, Hemivertebrae, 11 pairs of ribs, Ven... |
OMIM:264480 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Overlapping toe, Atrial septal defect, Flexion contracture, Overlapping fin... |
OMIM:619383 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor, Spasticity of facial muscles |
OMIM:606353 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Abnormal hip bone morphology, Short nec... |
ORPHA:2522 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Congenital hip dislocation, Pectus carinatum, Sudden episodic apnea, Episodic... |
ORPHA:98914 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Pectus excavatum, Atrial septal defect, Macroglossia, Flexion contracture, ... |
OMIM:617303 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Constricting Bands, Congenital |
|
Abnormal rib cage morphology, Syndactyly, Scoliosis, Bladder exstrophy, Ectopia cordis, Omphaloce... |
OMIM:217100 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
| Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Petechiae, Nonimmune hydrops fetalis, Neonatal death, Polyhydramnios... |
OMIM:608013 |
| Achondrogenesis, Type Ii |
|
Short ribs, Barrel-shaped chest, Hydrops fetalis, Short tubular bones of the hand, Polyhydramnios... |
OMIM:200610 |
| Cardiospondylocarpofacial Syndrome |
|
Rib fusion, Carpal synostosis, Atrial septal defect, Congenital diaphragmatic hernia, Muscular ve... |
OMIM:157800 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Dysosteosclerosis |
|
Irregular vertebral endplates, Narrow chest, Hypoplastic vertebral bodies, Short sternum, Abnorma... |
OMIM:224300 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
| Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, Respiratory insufficiency, ... |
ORPHA:2162 |
| Multiple Pterygium Syndrome, X-Linked |
|
Amyoplasia, Hypoplastic heart, Flexion contracture, Thin ribs, Abnormal cervical curvature, Polyh... |
OMIM:312150 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Respiratory failure, Arthrogry... |
OMIM:607598 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Cough, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Decreased nasal nitric oxide |
OMIM:619607 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia |
OMIM:611812 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Dehydration, Cardiomyopathy |
ORPHA:79312 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aorti... |
ORPHA:210122 |
| Mosaic Trisomy 9 |
|
Supernumerary ribs, Atrial septal defect, Hemivertebrae, Camptodactyly of finger, Hydrops fetalis... |
ORPHA:99776 |
| Moebius Syndrome |
|
Facial diplegia, Respiratory distress, Short neck, Brachydactyly, Short phalanx of finger, Congen... |
OMIM:157900 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Neonatal death |
OMIM:601612 |
| Peripartum Cardiomyopathy |
|
Asthma, Left ventricular hypertrophy, Paroxysmal dyspnea, Crackles, Myocarditis, Orthopnea, Dilat... |
ORPHA:563 |
| Kabuki Syndrome |
|
Abnormal cardiac septum morphology, Butterfly vertebrae, Congenital diaphragmatic hernia, Vertebr... |
ORPHA:2322 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Hypoplastic heart, Flexion contracture, Thin ribs, Abnormal cervical curvature, Polyh... |
OMIM:253290 |
| Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
| Loeffler Endocarditis |
|
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... |
ORPHA:75566 |
| Spontaneous Periodic Hypothermia |
|
Pallor, Abnormal pattern of respiration |
ORPHA:29822 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Polydactyly, Recurrent pneumonia, Hypoventilat... |
ORPHA:314655 |
| Orofaciodigital Syndrome Iii |
|
Kyphosis, Pectus excavatum, Short sternum, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:258850 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Short distal phalanx of finger, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal i... |
OMIM:614080 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Atrial septal defect, Dysplastic pulmonary valve, Prominent fingertip pads,... |
OMIM:612863 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... |
ORPHA:1686 |
| Chitayat Syndrome |
|
Respiratory distress, Pectus excavatum, Tracheomalacia, Brachydactyly, Polyhydramnios, Hallux valgus |
OMIM:617180 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... |
OMIM:619334 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Atrial septal defect, Episodic tachypnea, Exercise-induced rhabdomyolysis, ... |
ORPHA:26793 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Absent ossification of capit... |
ORPHA:226313 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Brachydactyly, Polydactyly, Situs inversus t... |
OMIM:615994 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Secundum atrial septal defect, Tracheomalacia, Situs inversus totalis, Poly... |
OMIM:202650 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ortho... |
ORPHA:2041 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
| Diamond-Blackfan Anemia 1 |
|
Narrow chest, Atrial septal defect, Absent thumb, Hypoplastic coccygeal vertebrae, Tricuspid sten... |
OMIM:105650 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Hydrops fetalis, Myocarditis, Polyhydramnios, Cardiomyopathy, Pleural effus... |
ORPHA:292 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Lymphatic Malformation 12 |
|
Inguinal hernia, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyhydramnios,... |
OMIM:620014 |
| Radio-Renal Syndrome |
|
Respiratory distress, Chylothorax, Hypoplasia of the radius, Short neck, Brachydactyly, Abnormal ... |
ORPHA:3015 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Ventricular septal defect, Omphalocele, Short long bone, Short ribs, Bowing of the ar... |
OMIM:269860 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Rhabdomyolysis, Pneumot... |
ORPHA:454836 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Congenital diaphragmatic hernia, Small hand, Contracture of the proximal in... |
OMIM:301044 |
| Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Genu valgum, Partial fusion of tarsals, Bowing of the l... |
OMIM:305620 |
| C Syndrome |
|
Dislocated radial head, Pectus excavatum, Clinodactyly of the 5th finger, Congenital diaphragmati... |
ORPHA:1308 |
| Kniest-Like Dysplasia, Lethal |
|
Narrow chest, Metaphyseal irregularity, Hypoplastic vertebral bodies, Atrial septal defect, Short... |
OMIM:245190 |
| Fryns Syndrome |
|
Short distal phalanx of finger, Atrial septal defect, Joint contracture of the hand, Chylothorax,... |
OMIM:229850 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... |
ORPHA:36238 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Bowing of the long bones, Respiratory failure, Short long bone, Thoracic h... |
ORPHA:1505 |
| Joubert Syndrome With Ocular Defect |
|
Apnea, Scoliosis, Abnormal vertebral morphology, Dextrocardia, Hand polydactyly, Abnormal pattern... |
ORPHA:220493 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Small hand, Muscular dystrophy, Upper limb undergrowth, Camptodactyly, Knee... |
OMIM:608799 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Apnea, Cerebral edema |
ORPHA:439218 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Dyspnea, Neonatal death, Tachypnea, Cough, Death in infan... |
OMIM:610921 |
| Oligomeganephronia |
|
Dehydration, Secundum atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:2260 |
| Mgat2-Cdg |
|
Respiratory distress, Kyphosis, Pectus excavatum, Hydrops fetalis, Brachydactyly, Scoliosis, Vent... |
ORPHA:79329 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Respiratory distress, Congenital di... |
ORPHA:2556 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, ... |
ORPHA:699 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Rocker bottom foot, Hyperlordosis, Polyhydramnios, Absent verteb... |
ORPHA:63259 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Aplasia of the ulna, Respiratory distress, Short sternum, Short metacarpal, Thin ribs, Short ribs... |
OMIM:266910 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Lumbar hyperlordosis, Atrial septal defect, Flexion con... |
ORPHA:505248 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Neonatal death, Dilated cardiomyopathy, Increased Z-disc width, Left atrial en... |
OMIM:619897 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Kyphosis, Respiratory insufficiency, Hand muscle atrophy, Scoliosis, Noctur... |
OMIM:211530 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pectus excavatum, Congenital diaphragmatic hernia, Inguinal hernia, Cutis laxa, Arachnodactyly, E... |
OMIM:614437 |
| Evans Syndrome |
|
Pallor, Dyspnea, Petechiae, Epistaxis |
ORPHA:1959 |
| Acute Lung Injury |
|
Respiratory distress, Tachypnea, Edema, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:178320 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Dyspnea, Pedal edema, Pulmonary arterial hypertension, Right ventricular dilatation |
ORPHA:422 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
| Coffin-Siris Syndrome 1 |
|
Short sternum, Prominent fingertip pads, Ventricular septal defect, Sandal gap, Umbilical hernia,... |
OMIM:135900 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Absent glenoid fossa, Hemivertebrae, Pectus carinatum, Genu valgum, Absent ... |
OMIM:224690 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Cone-shaped epiphyses of the phalanges of the hand, Spondylolisthesis, Shor... |
OMIM:119600 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension |
OMIM:106700 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in mus... |
OMIM:164310 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... |
ORPHA:99125 |
| Kaposiform Lymphangiomatosis |
|
Abnormality of femur morphology, Abnormal scapula morphology, Fractures of the long bones, Abnorm... |
ORPHA:464329 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Pectus excavatum, Clinodactyly of the 5th finger, Short neck, Scoliosis, Tetralogy of Fallot, Lon... |
ORPHA:96092 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
| Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... |
ORPHA:1596 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Respiratory distress, Bicuspid aortic valve, Aortic valve atresia,... |
ORPHA:2299 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Axial muscle stiffness |
ORPHA:240085 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... |
OMIM:613751 |
| Focal Dermal Hypoplasia |
|
Hiatus hernia, Congenital hip dislocation, Umbilical hernia, Omphalocele, Midclavicular aplasia, ... |
OMIM:305600 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Hydrops fetalis, Tachypnea |
ORPHA:45452 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Weakness of facial musculature, Death in childhood, Increased intramyocellu... |
OMIM:220110 |
| Rare Circulatory System Disease |
|
Abnormality of finger, Spinal rigidity, Pallor, Abnormal metatarsal morphology, Thoracic kyphosis... |
ORPHA:98028 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Atrial septal defect, Slender finger, Ventricular septal defect, Proximal p... |
OMIM:610536 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Narrow chest, Respiratory distress, Short clavicles, Short ribs, Atrioventricular canal defect, P... |
OMIM:617088 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Polyhydramnios, Respiratory distress |
ORPHA:990 |
| Monosomy 9P |
|
Congenital diaphragmatic hernia, Abnormality of the vertebral column, Short neck, Scoliosis, Post... |
ORPHA:261112 |
| Scarf Syndrome |
|
Diastasis recti, Short sternum, Inguinal hernia, Cutis laxa, Short neck, Abnormal form of the ver... |
ORPHA:3134 |
| Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Joint swelling, Asthma, Pallor, Swelling of proximal interphalangeal joints... |
ORPHA:3260 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Pulmonary veno... |
ORPHA:3092 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:250999 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Respiratory insufficiency, Oligohydramnios, Congenital diaphragmatic hernia, Abnormal heart morph... |
OMIM:617641 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Adducted thumb, Short neck, Palpebral edema, 11 pairs of ribs, Polyhydramnios |
ORPHA:50810 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Oligohydramnios, Lipoatrophy |
ORPHA:261304 |
| Osteoglophonic Dysplasia |
|
Broad metacarpals, Respiratory distress, Broad phalanx, Inguinal hernia, Short neck, Platyspondyl... |
OMIM:166250 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
| Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
| Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Clinodactyly of the 5th finger, Pectus excavatum, Aplasia/... |
ORPHA:3309 |
| Marden-Walker Syndrome |
|
Kyphosis, Pectus excavatum, Arachnodactyly, Muscular dystrophy, Abnormal anatomic location of the... |
ORPHA:2461 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Right atrial enlargement, Pulmonary venous hypertension, Pulmonary edema, Orthopnea, Interstitial... |
ORPHA:75249 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Lymphatic Malformation 6 |
|
Pectus excavatum, Facial edema, Atrial septal defect, Genital edema, Cellulitis, Chylothorax, Non... |
OMIM:616843 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Macroglossia, Left ventri... |
ORPHA:308552 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Lymphedema, Respiratory failure |
ORPHA:3226 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Narrow chest, Atrial septal defect, Atrioventricular canal defect... |
ORPHA:289 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Syndactyly |
OMIM:615631 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
| Distal Trisomy 5Q |
|
Absent thumb, Hypoplasia of the radius, Brachydactyly, Ventricular septal defect, Dextrocardia, H... |
ORPHA:96097 |
| Greenberg Dysplasia |
|
Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, 11 p... |
OMIM:215140 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Primum atrial septal defect, Right ventricular hypertrophy, Crackl... |
ORPHA:1329 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Narrow chest, Apnea, Pallor, Abnormal rib morphology, Chroni... |
ORPHA:667 |
| Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Pedal edema, ... |
ORPHA:439 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Pallor, Apneic episodes in infancy, Dyspnea, Intermitte... |
ORPHA:348 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Pallor, Dehydration, Tachypnea, Dilated cardiomyopathy, Edema |
ORPHA:20 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bicuspid aortic valve, Pectus excavatum, Kyphoscoliosis, Inguinal hernia, Arachnodactyly, Atlanto... |
ORPHA:536545 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic fibrosis, Hepatomegaly, Asplenia, Cholestasis |
OMIM:615415 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:99095 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Dehydration, Cardiomyopathy |
OMIM:251000 |
| Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachypnea, Abnormal thorax morphology, Pneumonia, Hypoxemia, Respiratory failure... |
ORPHA:70587 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pectus excavatum, Pallor, Increased variability in muscle fiber diameter, Multiple lipomas, Scoli... |
OMIM:617675 |
| Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Sleep apnea, Congenital diaphragmatic hernia, Inguinal hernia, Macroglossia, Red... |
ORPHA:116 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Scoliosis, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Right ventricular dila... |
ORPHA:369847 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Atrial septal defect, Postaxial polydactyly, Small hand, Scoliosis, Tapered... |
OMIM:300968 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress |
OMIM:614741 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Fused cervical vertebrae, Flaring of rib cage, Broad ribs |
OMIM:612852 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Hypoxemia, Hemothorax, Elevated pulmonary artery pressure, Decreased DLCO, Pedal... |
ORPHA:199241 |
| Marshall-Smith Syndrome |
|
Apnea, Airway obstruction, Pectus excavatum, Short sternum, Slender finger, Prominent fingertip p... |
OMIM:602535 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Abnormal... |
OMIM:616749 |
| Boomerang Dysplasia |
|
Hypoplastic iliac body, Neonatal death, Absent radius, Fibular aplasia |
OMIM:112310 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Pallor, Dehydration, Aspiration, Facial hypotonia, Cardiomyopathy |
ORPHA:2131 |
| Sepsis In Premature Infants |
|
Petechiae, Pallor, Abnormal respiratory system physiology, Abnormal mucociliary clearance, Purpur... |
ORPHA:90051 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis |
ORPHA:37612 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Abnormal skeletal muscle morphology, Cough, Upper airway obstruction, Dyspn... |
ORPHA:142 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Cellulitis, Myositis, Myocarditis, Tachypnea, Fasciitis, Ecchymo... |
ORPHA:36234 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Cirrhosis, Chronic hepatitis, Iron deficiency anemia,... |
OMIM:269200 |
| Dextrocardia |
|
Congenital hip dislocation, Situs inversus totalis, Dextrocardia, Abnormal rib morphology, Abnorm... |
ORPHA:1666 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Respiratory distress, Respiratory insufficiency ... |
ORPHA:365 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Histiocytoid ca... |
OMIM:309801 |
| Q Fever |
|
Respiratory distress, Endocarditis, Myocarditis, Cough, Purpura, Pleural effusion, Pneumonia, Abn... |
ORPHA:781 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Generalized limb muscle atrophy, Pallor |
OMIM:600462 |
| Scarf Syndrome |
|
Diastasis recti, Short sternum, Inguinal hernia, Barrel-shaped chest, Short neck, Abnormal form o... |
OMIM:312830 |
| Blackfan-Diamond Anemia |
|
Sprengel anomaly, Abnormality of the thenar eminence, Atrial septal defect, Absent thumb, Pallor,... |
ORPHA:124 |
| Familial Dilated Cardiomyopathy |
|
Left ventricular hypertrophy, Elevated pulmonary artery pressure, Cough, Dyspnea, Right ventricul... |
ORPHA:217607 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Kyphosis, Respiratory insufficiency due to muscle weakness, Respiratory ins... |
OMIM:615512 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Cornelia De Lange Syndrome |
|
Pectus excavatum, Atrial septal defect, Congenital diaphragmatic hernia, Clinodactyly of the 5th ... |
ORPHA:199 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Inguinal hernia, Hydrops fetalis, M... |
OMIM:212093 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Exertional dyspnea |
ORPHA:90037 |
| Restrictive Dermopathy 2 |
|
Respiratory distress, Short clavicles, Overtubulated long bones |
OMIM:619793 |
| Autoimmune Hemolytic Anemia |
|
