Omphalocele |
|
Omphalocele |
ORPHA:660 |
Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Gastroschisis |
|
Gastroschisis, Abdominal wall defect |
OMIM:230750 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricula... |
DECIPHER:39 |
Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Fetal Encasement Syndrome |
|
Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele |
OMIM:613630 |
Cardiomyopathy, Dilated, 1I |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Gastroschisis |
|
Gastroschisis |
ORPHA:2368 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Congenital diaphragmatic hernia |
OMIM:226735 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele |
OMIM:258320 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Hernia, Double Inguinal |
|
Inguinal hernia |
OMIM:142350 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Hernia, Anterior Diaphragmatic |
|
Congenital diaphragmatic hernia |
OMIM:306950 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture |
ORPHA:171719 |
Pseudodiastrophic Dysplasia |
|
Omphalocele |
ORPHA:85174 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Inguinal hernia, Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar ... |
OMIM:619903 |
Neuronal Intestinal Pseudoobstruction |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:99811 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:563609 |
Hereditary Continuous Muscle Fiber Activity |
|
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia |
ORPHA:972 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium |
OMIM:615524 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:2141 |
Polydactyly-Myopia Syndrome |
|
Femoral hernia, Inguinal hernia |
ORPHA:2917 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Ventricular septal defect, Umbilical hernia, Omphalocele, Abnormal heart morphology |
ORPHA:254534 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Omphalocele |
ORPHA:2143 |
3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy |
OMIM:250951 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Trigonocephaly 1 |
|
Omphalocele |
OMIM:190440 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Gastroschisis |
ORPHA:2476 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Inguinal hernia |
OMIM:261550 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the ... |
OMIM:618901 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia |
ORPHA:36 |
Rhiny |
|
Inguinal hernia |
OMIM:180360 |
Miller-Dieker Syndrome |
|
Omphalocele |
ORPHA:531 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Acalvaria |
|
Omphalocele |
ORPHA:945 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect, Omphalocele |
OMIM:601357 |
2q33.1 deletion syndrome |
|
Inguinal hernia |
DECIPHER:51 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Schisis Association |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63862 |
Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Pa... |
ORPHA:2847 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Colonic Atresia |
|
Gastroschisis, Omphalocele |
ORPHA:1198 |
Hydrocephalus With Associated Malformations |
|
Omphalocele |
OMIM:236640 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Bicuspid aortic valve, Omphalocele, Camptodactyly |
OMIM:618529 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Omphalocele |
ORPHA:93267 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Ectopia cordis, Ventral hernia, Transposition of the great arter... |
OMIM:313850 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot |
ORPHA:1166 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Omphalocele |
OMIM:614450 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:380 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Right Atrial Isomerism |
|
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... |
OMIM:208530 |
X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Inguinal hernia |
ORPHA:1568 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia, Omphalocele, Abnormal heart morphology |
OMIM:263210 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Omphalocele |
OMIM:601927 |
Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:139466 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele |
ORPHA:1263 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Joint contracture of the hand, Inguinal hernia, Small thenar eminence, Camptodactyly, Mitral valv... |
OMIM:211960 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Distal Trisomy 15Q |
|
Camptodactyly of finger, Omphalocele, Congenital muscular torticollis |
ORPHA:1707 |
Emanuel Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Aortic valve stenosis, Pu... |
OMIM:609029 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Umbilical he... |
ORPHA:1488 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Cardiac Diverticulum |
|
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... |
ORPHA:1686 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morphology, Tetralogy... |
ORPHA:1335 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
Arterial Tortuosity Syndrome |
|
Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture, Aortic valv... |
OMIM:208050 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Atrial septal defect, Inguinal hernia, Flexion contracture, Pulmonic stenosis, V... |
OMIM:608149 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Prune belly |
OMIM:601389 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Patent foramen ovale, Congenital diaphragmatic hernia |
OMIM:619699 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphr... |
ORPHA:1120 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Diaphragmatic eventration, Ventricular septal defect, Umbilical ... |
OMIM:222448 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Ventricular septal defect, Omphalocele, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Bladder Exstrophy |
|
Omphalocele, Bladder exstrophy, Inguinal hernia, Umbilical hernia |
ORPHA:93930 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Pulmonic stenosis, Single... |
OMIM:601186 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:63260 |
Mullegama-Klein-Martinez Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic left heart |
OMIM:301022 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Constricting Bands, Congenital |
|
Bladder exstrophy, Gastroschisis, Omphalocele, Ectopia cordis |
OMIM:217100 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele |
OMIM:248450 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect, Omphalocele |
OMIM:617895 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:300978 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Caudal Duplication |
|
Omphalocele |
ORPHA:1756 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
X-Linked Ehlers-Danlos Syndrome |
|
Hernia, Inguinal hernia, Umbilical hernia |
ORPHA:75497 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:261344 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyl... |
ORPHA:2311 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hern... |
OMIM:600001 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Flexion contracture, Umbilical hernia, Perimemb... |
OMIM:618651 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia |
ORPHA:2063 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia |
OMIM:219100 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Emanuel Syndrome |
|
Multiple joint contractures, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hern... |
ORPHA:96170 |
Chromosome 15Q25 Deletion Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular... |
OMIM:614294 |
Microspherophakia With Hernia |
|
Inguinal hernia |
OMIM:157150 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:284180 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Dextrocardia, Complete atriov... |
OMIM:264480 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Ventricular septal de... |
ORPHA:371428 |
Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Atrioventricular canal defect |
ORPHA:2409 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Neoplasm of the heart, Umbilical hernia, Omphalocele |
ORPHA:2241 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Triploidy |
|
Abnormal cardiac septum morphology, Macroglossia, Omphalocele |
ORPHA:3376 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Carpenter Syndrome 1 |
|
Atrial septal defect, Joint contracture of the hand, Pulmonic stenosis, Tetralogy of Fallot, Camp... |
OMIM:201000 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Inguinal hernia, Patent fora... |
OMIM:618454 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture of finger, Flexion contracture, Macroglossia, Inguinal herni... |
ORPHA:254528 |
Dislocation Of Hip, Congenital, With Hyperextensibility Of Fingers And Facial Dysmorphism |
|
Atrial septal defect, Patent foramen ovale, Inguinal hernia |
OMIM:601450 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Kennerknecht syndrome |
|
Omphalocele |
OMIM:600908 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Heterotaxy, Visceral, 1, X-Linked |
|
Double outlet right ventricle, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Atr... |
OMIM:306955 |
Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphragmatic hernia, Aortic ... |
ORPHA:3097 |
Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Omphalocele |
OMIM:145420 |
15Q24 Microdeletion Syndrome |
|
Hernia, Congenital diaphragmatic hernia, Abnormal heart morphology |
ORPHA:94065 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Abnormal ad... |
ORPHA:2092 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Omphalocele, Perimembranous ven... |
OMIM:158170 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Complete atrioventricular canal defect, Transposition of the great... |
OMIM:217095 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1834 |
8P23.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Atri... |
ORPHA:251071 |
Vacterl/Vater Association |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:887 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextroca... |
ORPHA:261197 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Inguinal hernia |
OMIM:609141 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele |
ORPHA:2736 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Atrial septal defect, Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
Meckel Syndrome, Type 2 |
|
Omphalocele |
OMIM:603194 |
Melnick-Needles Syndrome |
|
Abnormal cardiac septum morphology, Omphalocele |
ORPHA:2484 |
Persistent Müllerian Duct Syndrome |
|
Inguinal hernia |
ORPHA:2856 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia |
OMIM:235760 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Atrial septal defect, Congenital diaphragmatic hernia |
OMIM:616777 |
Mosaic Trisomy 1 |
|
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Elbow flexio... |
ORPHA:1692 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele |
ORPHA:3035 |
Intellectual Disability-Strabismus Syndrome |
|
Atrial septal defect, Joint contracture of the hand, Congenital diaphragmatic hernia, Congenital ... |
ORPHA:363528 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia |
OMIM:618846 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Abnormality of the abdominal wall, Bicuspid aortic valve, Atrial septal defect, Congenital diaphr... |
OMIM:245600 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:2075 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Aplasia of the left hemidiaphragm |
OMIM:618238 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular septal defe... |
OMIM:613751 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:613309 |
Zaki Syndrome |
|
Patent foramen ovale, Congenital diaphragmatic hernia |
OMIM:619648 |
Fryns Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalo... |
ORPHA:2059 |
Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Transposition of the great arteries, Congenital diaphragmatic hernia, ... |
ORPHA:1780 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Enamel hypoplasia, Ventricular septal defect, Omphalocele |
OMIM:243150 |
Miller-Dieker Lissencephaly Syndrome |
|
Abnormality of the abdominal wall, Joint contracture of the hand, Inguinal hernia, Camptodactyly,... |
OMIM:247200 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor, Syndactyly |
OMIM:615631 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, Facial hypotonia, Abnormal hear... |
ORPHA:468678 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, C... |
OMIM:617713 |
C Syndrome |
|
Ventricular septal defect, Omphalocele |
OMIM:211750 |
Fibrochondrogenesis 1 |
|
Patent foramen ovale, Joint contracture of the hand, Omphalocele, Camptodactyly |
OMIM:228520 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:612530 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
Opitz Gbbb Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect... |
ORPHA:2745 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele |
ORPHA:3329 |
Trisomy 18 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septa... |
ORPHA:3380 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic hernia, Pulmonic sten... |
ORPHA:2255 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Pagod Syndrome |
|
Situs inversus totalis, Congenital diaphragmatic hernia, Omphalocele, Hypoplastic left heart |
ORPHA:991 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Flexion contracture, Inguinal herni... |
OMIM:265000 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:611812 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm |
ORPHA:2437 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:250999 |
Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
3Mc Syndrome 1 |
|
Ventricular septal defect, Abnormality of the abdominal wall, Atrial septal defect, Omphalocele |
OMIM:257920 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
White-Sutton Syndrome |
|
Patent foramen ovale, Facial hypotonia, Congenital diaphragmatic hernia, Atrial septal defect |
OMIM:616364 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia |
OMIM:606164 |
D-Lactic Aciduria With Gout |
|
Inguinal hernia |
OMIM:245450 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
ORPHA:1001 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Enamel hypoplasia, Ventricular septal defect... |
OMIM:600373 |
Myopathic Ehlers-Danlos Syndrome |
|
Talipes equinovarus, Adducted thumb, Pallor, Tapered finger, Congenital finger flexion contractures |
ORPHA:536516 |
Iniencephaly |
|
Congenital diaphragmatic hernia, Gastroschisis, Arthrogryposis multiplex congenita, Omphalocele |
ORPHA:63259 |
Fibrochondrogenesis |
|
Camptodactyly of finger, Omphalocele |
ORPHA:2021 |
Otopalatodigital Syndrome, Type I |
|
Omphalocele |
OMIM:311300 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Atrial septal defect, Ve... |
ORPHA:96121 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Camptodactyly, Ventricular septal defect, Patent foramen ovale, Omphalocele |
OMIM:616894 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Elevated circulating creatine kinase concentration, Dil... |
OMIM:300257 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Hypoplastic left heart, Scimitar anomaly, ... |
OMIM:618280 |
Beta-Thalassemia |
|
Skin ulcer, Pallor |
ORPHA:848 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid valve prolapse, Mitral stenosis, Tricuspid atresia, Inguinal hernia, Mitral valve prola... |
OMIM:212093 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1647 |
Simpson-Golabi-Behmel Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Macroglossia, Aplasia/Hyp... |
ORPHA:373 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Diastasis recti, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplasti... |
OMIM:265380 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Congenital diaphragmatic hernia |
OMIM:618022 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Alg9-Cdg |
|
Torticollis, Hypoplasia of the musculature, Atrial septal defect, Ventricular septal defect, Lipo... |
ORPHA:79328 |
Limb Body Wall Complex |
|
Diastasis recti, Atrial septal defect, Thoracoabdominal wall defect, Congenital diaphragmatic her... |
ORPHA:2369 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Inguinal hernia, Right ventricular hypertrophy, Pulmonic stenosis, Pate... |
OMIM:616028 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly, Pericarditis, Pericardial effusion |
ORPHA:1272 |
Otopalatodigital Syndrome Type 2 |
|
Abnormal heart valve morphology, Abnormal cardiac septum morphology, Camptodactyly of finger, Omp... |
ORPHA:90652 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular septal... |
OMIM:619343 |
Cornelia De Lange Syndrome 1 |
|
Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Ventricular septal defect, Elbow... |
OMIM:122470 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Inguinal hernia, Patent foramen ovale, Omphalocele |
OMIM:269860 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Developmental And Epileptic Encephalopathy 89 |
|
Flexion contracture, Omphalocele |
OMIM:619124 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Congenital Fibrinogen Deficiency |
|
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... |
ORPHA:335 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Oligomeganephronia |
|
Secundum atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:2260 |
Leishmaniasis |
|
Skin ulcer, Pallor |
ORPHA:507 |
Gm1 Gangliosidosis |
|
Macroglossia, Inguinal hernia, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:354 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Congenital diaphragmatic hernia |
OMIM:616546 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Transient hyper... |
OMIM:255120 |
Osteopathia Striata With Cranial Sclerosis |
|
Atrial septal defect, Joint contracture of the hand, Camptodactyly, Ventricular septal defect, Fl... |
OMIM:300373 |
Kagami-Ogata Syndrome |
|
Diastasis recti, Inguinal hernia, Omphalocele |
ORPHA:254519 |
Holoprosencephaly |
|
Abnormal pulmonary valve morphology, Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventri... |
ORPHA:2162 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Pallor, Hypoplasia of the radius, Short 1st metacarpal, Intrauterine growth retarda... |
OMIM:609053 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal cardiac septum morphology, Umbilical hernia, Omphalocele |
ORPHA:2166 |
Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Exstrophy-Epispadias Complex |
|
Abnormality of the abdominal wall, Cloacal exstrophy, Inguinal hernia, Cystocele, Abdominal wall ... |
ORPHA:322 |
Specc1L-Related Hypertelorism Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia, Omphalocele |
ORPHA:1519 |
Cloacal Exstrophy |
|
Cloacal exstrophy, Bladder exstrophy, Omphalocele |
ORPHA:93929 |
Primary Myelofibrosis |
|
Pallor, Purpura, Ecchymosis, Petechiae |
ORPHA:824 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Ventricular septal defect, Histiocytoid ca... |
OMIM:309801 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Omphalocele |
ORPHA:436252 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:268249 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Congenital diaphragmatic hernia |
OMIM:614080 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2470 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Femoral hernia, Inguinal hernia |
OMIM:223330 |
Heterotaxy, Visceral, 12, Autosomal |
|
Double outlet right ventricle, Double inlet right ventricle, Atrial septal defect, Hypoplastic le... |
OMIM:619702 |
Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:98375 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor, Intrauterine growth retardation |
OMIM:266200 |
Necrotizing Enterocolitis |
|
Gastroschisis, Abnormal heart morphology |
ORPHA:391673 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Elevated hepat... |
ORPHA:101330 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Overriding aorta, Tetralogy of Fallot, Omphalocele |
ORPHA:3186 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele |
OMIM:200995 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Prolonged prothrombin time |
ORPHA:49566 |
Bartsocas-Papas Syndrome 1 |
|
Inguinal hernia, Flexion contracture, Inferiorly positioned umbilicus, Patent foramen ovale, Arth... |
OMIM:263650 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Umbilical hernia |
OMIM:304110 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Macroglossia, Omphalocele, Cardiomyopathy, Cardiomegaly |
OMIM:130650 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:958 |
Hydrolethalus Syndrome 1 |
|
Agenesis of the diaphragm, Ventricular septal defect, Complete atrioventricular canal defect, Omp... |
OMIM:236680 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele |
OMIM:616300 |
Fryns Syndrome |
|
Atrial septal defect, Joint contracture of the hand, Aplasia of the left hemidiaphragm, Camptodac... |
OMIM:229850 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Congenital diaphragmatic hernia, Inguinal hernia, Macroglossia, Rhabdomyosarcoma... |
ORPHA:116 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Senior-Loken Syndrome 8 |
|
Pallor, Polydactyly |
OMIM:616307 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Gastroschisis |
OMIM:273395 |
Marshall-Smith Syndrome |
|
Atrial septal defect, Ventricular septal defect, Umbilical hernia, Omphalocele, Dysplastic aortic... |
OMIM:602535 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal dental enamel morphology, Atrial septal defect, Congenital diaphragmatic hernia, Atriove... |
ORPHA:818 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
|
Multiple joint contractures, Joint contracture of the hand, Inguinal hernia, Camptodactyly, Ventr... |
OMIM:218649 |
Esophageal Atresia |
|
Ventricular septal defect, Tetralogy of Fallot, Omphalocele |
ORPHA:1199 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia |
OMIM:267000 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Okamoto Syndrome |
|
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Abnormal le... |
ORPHA:2729 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele |
OMIM:304120 |
Melnick-Needles Syndrome |
|
Tricuspid valve prolapse, Mitral valve prolapse, Omphalocele |
OMIM:309350 |
Klippel-Trénaunay Syndrome |
|
Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gastrointestinal hemorrhage, Co... |
ORPHA:90308 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Diastasis recti, Omphalocele |
OMIM:618419 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Rare Circulatory System Disease |
|
Pallor, Abnormal metatarsal morphology, Abnormality of finger, Abnormal hand morphology |
ORPHA:98028 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... |
ORPHA:1596 |
Denys-Drash Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:194080 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Inguinal hernia |
OMIM:614437 |
Wolf-Hirschhorn Syndrome |
|
Abnormal cardiac septum morphology, Atrial septal defect, Congenital diaphragmatic hernia, Hernia... |
ORPHA:280 |
Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
Hamamy Syndrome |
|
Enamel hypoplasia, Complete atrioventricular canal defect, Atrial septal defect, Inguinal hernia |
OMIM:611174 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... |
ORPHA:456312 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele |
ORPHA:3164 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Atrial septal defect, Congenital diaphragmatic hernia, Contracture of the proximal interphalangea... |
OMIM:301044 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Patent foramen ovale, Inguinal hernia |
ORPHA:221120 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:617641 |
Holoprosencephaly 7 |
|
Omphalocele |
OMIM:610828 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Diastasis recti, Flexion contracture of thumb, Atrial septal defect, Flexion contracture, Macrogl... |
ORPHA:96334 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Mi... |
ORPHA:2556 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Abnormal A-type atrial natriuretic peptide level, Left ve... |
ORPHA:57777 |
Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Omphalocele |
ORPHA:920 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele |
OMIM:182210 |
Cardiospondylocarpofacial Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, Ventri... |
OMIM:157800 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Diastasis recti, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Right ve... |
OMIM:312870 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Secondary Short Bowel Syndrome |
|
Gastroschisis |
ORPHA:95427 |
Kabuki Syndrome |
|
Abnormal cardiac septum morphology, Congenital diaphragmatic hernia |
ORPHA:2322 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Enamel hypoplas... |
OMIM:305600 |
C Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Omphalocele |
ORPHA:1308 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Poland Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Ab... |
ORPHA:2911 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the papillary muscles... |
ORPHA:1329 |
Coffin-Siris Syndrome 1 |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Tetralogy of Fallot, Vent... |
OMIM:135900 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Bladder Exstrophy And Epispadias Complex |
|
Bladder exstrophy, Inguinal hernia |
OMIM:600057 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Omphalocele |
OMIM:249000 |
Oeis Complex |
|
Cloacal exstrophy, Bladder exstrophy, Omphalocele |
OMIM:258040 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Elbow flexion contracture |
OMIM:200980 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Hereditary Spherocytosis |
|
Skin ulcer, Pallor |
ORPHA:822 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Dominant Beta-Thalassemia |
|
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones |
ORPHA:231226 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Monosomy 9P |
|
Hernia, Congenital diaphragmatic hernia |
ORPHA:261112 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Charge Syndrome |
|
Double outlet right ventricle, Secundum atrial septal defect, Atrial septal defect, Pulmonic sten... |
OMIM:214800 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Camptodactyly |
OMIM:200110 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Pallor |
ORPHA:231222 |
Sepsis In Premature Infants |
|
Pallor, Purpura, Petechiae |
ORPHA:90051 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele |
OMIM:618820 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Down Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Macroglossia, Atrioventricular canal defect,... |
OMIM:190685 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Complete atrioventricular canal defect, Atrial septal defect |
OMIM:617063 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Tetralogy of Fallot, Gastroschisis |
OMIM:154400 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation |
OMIM:608022 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Diaphragmatic eventration, Aortopulmonary window, Aplasia of the left ... |
OMIM:620025 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous hematomas, Bund... |
ORPHA:99827 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Beta-Thalassemia Major |
|
Skin ulcer, Genu valgum, Pallor, Bowing of the long bones |
ORPHA:231214 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Wiskott-Aldrich Syndrome |
|
Petechiae, Hematemesis, Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Sudden card... |
ORPHA:906 |
Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Inguinal hernia, Omphalocele |
ORPHA:2273 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Cornelia De Lange Syndrome |
|
Ventricular septal defect, Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:199 |
Sheehan Syndrome |
|
Pallor, Dry skin |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|