Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... |
OMIM:620265 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Diabetes mellitus, Hyp... |
ORPHA:79230 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Increased variability in muscle fiber diameter, Death in childhood, Neonatal de... |
OMIM:619334 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:615524 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperhidrosis |
ORPHA:276608 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsulinemi... |
ORPHA:276575 |
Isolated Anencephaly |
|
Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Cutis Laxa-Marfanoid Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellit... |
ORPHA:276580 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia |
OMIM:614100 |
Congenital Diaphragmatic Hernia |
|
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia |
ORPHA:2140 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Episodic hyperhidrosis, Hyperinsulinemic hypoglycemia, Excessive insulin response t... |
ORPHA:276556 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis |
OMIM:602199 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:438134 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:613630 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2141 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pan... |
OMIM:246200 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality o... |
ORPHA:93111 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemi... |
ORPHA:263455 |
Greig Cephalopolysyndactyly Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:380 |
Acrocallosal Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:36 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia |
ORPHA:1166 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Congenital diaphragmatic hernia |
OMIM:300887 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia... |
ORPHA:2470 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:166300 |
Non-Syndromic Posterior Hypospadias |
|
Abnormality of the endocrine system, Congenital diaphragmatic hernia, Androgen insufficiency |
ORPHA:95706 |
Serkal Syndrome |
|
Abnormality of the adrenal glands, Congenital diaphragmatic hernia |
ORPHA:139466 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Flexion contracture, Congenital diaphragmatic hernia |
OMIM:263210 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1520 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:363528 |
Cebalid Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618774 |
Tonne-Kalscheuer Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:300978 |
Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2143 |
Schisis Association |
|
Congenital diaphragmatic hernia |
ORPHA:63862 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia |
ORPHA:94065 |
Perlman Syndrome |
|
Hypoplasia of the abdominal wall musculature, Pancreatic islet-cell hyperplasia, Congenital diaph... |
OMIM:267000 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia |
ORPHA:1120 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:284180 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Type I diabetes mellitus, Hepatomegaly, Insulin-resistant diabetes mellitus, Reduced pancreatic b... |
OMIM:226980 |
Proximal 16P11.2 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:370079 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Congenital diaphragmatic hernia |
ORPHA:250999 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:618022 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia |
ORPHA:2075 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the spleen, Abnormality of the liver, Congenital diaphragmatic hernia |
ORPHA:1834 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619699 |
Emanuel Syndrome |
|
Joint contracture, Torticollis, Congenital diaphragmatic hernia |
OMIM:609029 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatomegaly, Death in infancy, Camptodactyly of finger, Congenital diaphragmatic hernia, Splenom... |
ORPHA:373 |
Denys-Drash Syndrome |
|
Neonatal death, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia |
OMIM:194080 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Pancreatic islet-cell hyperp... |
OMIM:215140 |
Pericardial And Diaphragmatic Defect |
|
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia |
ORPHA:2847 |
Lowry-Maclean Syndrome |
|
Abnormality of the abdominal organs, Congenital diaphragmatic hernia |
ORPHA:2409 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Arthrogryposis multip... |
ORPHA:99885 |
Emanuel Syndrome |
|
Multiple joint contractures, Hypogonadism, Congenital diaphragmatic hernia |
ORPHA:96170 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Multilobulated spleen, Neonatal death, Diaphragmatic eventration... |
OMIM:601186 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Congenital diaphragmatic hernia |
OMIM:606164 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2063 |
Halperin-Birk Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia, Death in childhood |
OMIM:618651 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Abnormality of the gallbladder, Congenital diaphragmatic hernia |
ORPHA:887 |
Zaki Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:619648 |
Trisomy 1Q |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:261344 |
Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1915 |
Oculocerebrocutaneous Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1647 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:2311 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Congenital diaphragmatic hernia |
OMIM:222448 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:612530 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:611812 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
OMIM:616364 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Congenital diaphragmatic hernia |
OMIM:615919 |
Diamond-Blackfan Anemia 10 |
|
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinoma |
OMIM:276700 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Elbow flexion contracture, Camptodactyly of finger, Congenital diaphragmatic he... |
ORPHA:1692 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1001 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Congenital diaphragmatic hernia, Polysplenia |
ORPHA:1335 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial musculature, Fle... |
OMIM:265000 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261197 |
Craniorachischisis |
|
Congenital diaphragmatic hernia |
ORPHA:63260 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, C... |
ORPHA:2255 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:251071 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:958 |
Seckel Syndrome 9 |
|
Congenital diaphragmatic hernia |
OMIM:616777 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Left ventricular hypertrophy, Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:245600 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Congenital diaphragmatic hernia |
OMIM:219100 |
White-Sutton Syndrome |
|
Facial hypotonia, Congenital diaphragmatic hernia |
ORPHA:468678 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Congenital diaphragmatic hernia, Rhabdo... |
ORPHA:116 |
Chromosome 15Q25 Deletion Syndrome |
|
Congenital diaphragmatic hernia, Polysplenia |
OMIM:614294 |
Arterial Tortuosity Syndrome |
|
Flexion contracture, Congenital diaphragmatic hernia |
OMIM:208050 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:1780 |
Holoprosencephaly |
|
Diabetes mellitus, Congenital diaphragmatic hernia, Abnormality of the spleen, Panhypopituitarism... |
ORPHA:2162 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic hernia |
ORPHA:2092 |
Fryns Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2059 |
Pagod Syndrome |
|
Abnormality of the spleen, Congenital diaphragmatic hernia, Death in infancy |
ORPHA:991 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:614080 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, Aplasia ... |
OMIM:600001 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Splenomegaly, M... |
OMIM:312870 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:3380 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Stillbirth, Agenesis of the diaphragm, Adrenal gland dysgenesis |
OMIM:236680 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia |
OMIM:618454 |
Oligomeganephronia |
|
Congenital diaphragmatic hernia |
ORPHA:2260 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:96121 |
Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:313850 |
Cornelia De Lange Syndrome 1 |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:122470 |
Opitz Gbbb Syndrome |
|
Thyroglossal cyst, Congenital diaphragmatic hernia |
ORPHA:2745 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:304110 |
Meacham Syndrome |
|
Abnormality of the spleen, Congenital diaphragmatic hernia |
ORPHA:3097 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:1272 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia |
ORPHA:268249 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia |
OMIM:616546 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Abdominal situs inversus, Congenital diaphragmatic hernia |
ORPHA:280 |
Kabuki Syndrome |
|
Precocious puberty, Congenital diaphragmatic hernia |
ORPHA:2322 |
Tetraamelia Syndrome 1 |
|
Asplenia, Adrenal gland agenesis, Congenital diaphragmatic hernia |
OMIM:273395 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder, Congenital diaphragmatic hernia |
ORPHA:818 |
Acrorenal-Mandibular Syndrome |
|
Elbow flexion contracture, Congenital diaphragmatic hernia |
OMIM:200980 |
Poland Syndrome |
|
Aplasia of the pectoralis major muscle, Abnormality of the liver, Diabetes mellitus, Congenital d... |
ORPHA:2911 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia |
OMIM:309801 |
Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Congenital diaphragmatic hernia |
ORPHA:1596 |
Acrofacial Dysostosis 1, Nager Type |
|
Congenital diaphragmatic hernia |
OMIM:154400 |
Monosomy 9P |
|
Congenital diaphragmatic hernia |
ORPHA:261112 |
C Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic ... |
ORPHA:1308 |
Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia |
OMIM:301022 |
Limb Body Wall Complex |
|
Abnormality of the liver, Diastasis recti, Congenital diaphragmatic hernia |
ORPHA:2369 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... |
OMIM:301044 |
Iniencephaly |
|
Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia |
ORPHA:63259 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia |
OMIM:617641 |
Diets-Jongmans Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:618846 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:2556 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia |
OMIM:614437 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Hepatopulmonary fusion, Congenital diaphragmatic hernia |
OMIM:618280 |
Witteveen-Kolk Syndrome |
|
Type II diabetes mellitus, Congenital diaphragmatic hernia, Decreased response to growth hormone ... |
OMIM:613406 |
Focal Dermal Hypoplasia |
|
Diastasis recti, Congenital diaphragmatic hernia |
OMIM:305600 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia |
OMIM:157800 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Delayed puberty |
ORPHA:199 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia |
OMIM:135900 |
Pallister-Killian Syndrome |
|
Anhidrosis, Congenital diaphragmatic hernia, Flexion contracture, Hypohidrosis, Macroglossia, Sti... |
OMIM:601803 |