Lung Cancer |
|
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma |
OMIM:211980 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Tumor Predisposition Syndrome |
|
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma |
OMIM:614327 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Small Cell Cancer Of The Lung |
|
Neoplasm of the lung |
OMIM:182280 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Ventricular septal defect, Cleft palate, Gonadal dysgenesis, male, Micrognathia, Cle... |
OMIM:231060 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Li-Fraumeni Syndrome |
|
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... |
OMIM:151623 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... |
OMIM:604213 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... |
ORPHA:101029 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Severe Primary Trimethylaminuria |
|
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression |
ORPHA:468726 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Band Heterotopia |
|
Subcortical band heterotopia, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Agenesis of... |
OMIM:600348 |
Cerebral Sarcoma |
|
Fibrosarcoma, Neoplasm |
OMIM:117600 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis |
OMIM:130700 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus ... |
OMIM:300067 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter, Pulmonic stenosis |
OMIM:264140 |
Li-Fraumeni Syndrome 2 |
|
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma |
OMIM:609265 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Lissencephaly, Pachygyria, Agyria, Gray matter heterotopia, Hypopla... |
OMIM:615411 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... |
OMIM:606719 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... |
OMIM:604317 |
Lissencephaly 3 |
|
Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Hypoplasia of the cor... |
OMIM:611603 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... |
OMIM:143400 |
Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
Prune Belly Syndrome |
|
Volvulus, Patent ductus arteriosus, Urogenital sinus anomaly, Intestinal atresia, Abnormality of ... |
ORPHA:2970 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis... |
OMIM:610031 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency |
OMIM:253300 |
Craniofacial Conodysplasia |
|
Hydrocephalus, Spinal cord compression |
ORPHA:85168 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... |
OMIM:615412 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... |
OMIM:615382 |
Microlissencephaly |
|
Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Liss... |
ORPHA:1083 |
Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Cryptorchidism, Hydroureter |
OMIM:224250 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Micrognathia, Duodenal stenosis, Hydroureter, Patent ductus arteriosus, Abnormality of the upper ... |
ORPHA:2547 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Abnormal cerebral white matter morphology, Gray... |
OMIM:607432 |
Lissencephaly 4 |
|
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:614019 |
Pierre Robin Syndrome |
|
Cor pulmonale, Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
Congenital Pulmonary Airway Malformation |
|
Respiratory insufficiency, Abnormal pleura morphology |
ORPHA:2444 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Tetralogy of Fallot, Perineal hypospadias... |
OMIM:615542 |
Prune Belly Syndrome |
|
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Xerostomia, Abnormal heart m... |
OMIM:100100 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... |
OMIM:263000 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis |
OMIM:601127 |
Larynx Atresia |
|
Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:1202 |
Mental Retardation, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease |
OMIM:617610 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... |
OMIM:610921 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... |
OMIM:614039 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Abnormal heart morphology, External genital hypoplasia, Renal cyst, Stage 5 chron... |
OMIM:613390 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teet... |
OMIM:616367 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... |
OMIM:265120 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... |
OMIM:618845 |
Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Vesicoureteral reflux |
OMIM:613674 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Hydronephrosis, Cleft palate, Micrognathia, Double outlet... |
OMIM:220210 |
Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Abnormality of lower lip, Mi... |
ORPHA:1166 |
Recombinant Chromosome 8 Syndrome |
|
Thick lower lip vermilion, Ventricular septal defect, Hydronephrosis, Micrognathia, Double outlet... |
OMIM:179613 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dysphagia, Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilatio... |
ORPHA:90117 |
Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Cryptorchidism, Enuresis, Ure... |
OMIM:236730 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... |
ORPHA:329228 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Hydronephrosis, Long philtrum, Pulmonic stenosis, Tetralogy of Fallot,... |
ORPHA:251076 |
Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Coronary artery atherosclerosis, Nephrocalcinosis |
OMIM:616833 |
Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Aminoaciduria, Right ventricular hypertrophy |
OMIM:268500 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Abnormality of the uterus, Mul... |
OMIM:617805 |
Alpha-1-Antitrypsin Deficiency |
|
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea |
OMIM:613490 |
Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:171703 |
Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Atrial septal defect, Sho... |
OMIM:614261 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... |
ORPHA:1926 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Cleft palate, Smooth philtrum, Pierre-Robin sequence, High palate, M... |
OMIM:611209 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy |
OMIM:115210 |
Idiopathic Bronchiectasis |
|
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... |
ORPHA:60033 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Micrognathia, Flexion contracture |
OMIM:617562 |
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis |
|
Micrognathia, Abnormal heart morphology, Micropenis, Cryptorchidism, Microphallus, Trismus |
OMIM:218450 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Neonatal death, Polymicrog... |
OMIM:619602 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... |
OMIM:608097 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... |
ORPHA:79127 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Lung adenocarcinoma, Interlobular septal thi... |
ORPHA:2302 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... |
OMIM:611556 |
Trisomy 17P |
|
Urethral valve, Hydronephrosis, Cleft palate, Skeletal muscle atrophy, Hypoplasia of penis, Ureth... |
ORPHA:261290 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Hydrocephalus, Cortical d... |
OMIM:618709 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Hypoplasia of the corpus callosum, Dysplastic corpus callosum |
OMIM:613162 |
Muir-Torre Syndrome |
|
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... |
OMIM:158320 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Micrognathia |
OMIM:601348 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... |
ORPHA:300573 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Nephrocalcinosis, Right ventricular hypertrophy, Renal t... |
OMIM:208085 |
Thomas Syndrome |
|
Cleft palate, Cleft upper lip, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasti... |
ORPHA:3316 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation |
OMIM:614859 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Renal agenesis, Truncus arteriosus |
OMIM:274210 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Abnormal pleura morphology, Re... |
ORPHA:724 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... |
OMIM:610913 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:618267 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis, Cryptorchidism, Hydroureter |
OMIM:616559 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Renal cyst, Mesome... |
OMIM:228940 |
Congenital Heart Defects, Multiple Types, 5 |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... |
OMIM:617912 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Renal agenesis, Abnormal heart morphology, Congenital malformation of the great art... |
ORPHA:294975 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Cortical dysp... |
OMIM:608716 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:618719 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria |
ORPHA:250972 |
Frontometaphyseal Dysplasia 1 |
|
Cor pulmonale, Ankle flexion contracture, Hydronephrosis, High palate, Mitral valve prolapse, Ske... |
OMIM:305620 |
Femoral-Facial Syndrome |
|
Micrognathia, Cleft palate, Long penis, Long philtrum, Abnormal localization of kidney, Renal hyp... |
ORPHA:1988 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... |
OMIM:613424 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
Ring Chromosome 8 Syndrome |
|
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Hepatomegaly, Ventricular septal defect, Abnormal aortic arch morphology... |
ORPHA:860 |
Classic Multiminicore Myopathy |
|
Increased muscle lipid content, Mitral valve prolapse, High palate, Weakness of facial musculatur... |
ORPHA:324604 |
Distal Tetrasomy 15Q |
|
Horseshoe kidney, Hydronephrosis, High palate, Micrognathia, Abnormal heart morphology, Abnormal ... |
ORPHA:314588 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Colonic diverticula, Polycystic ki... |
OMIM:173900 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Holzgreve Syndrome |
|
Renal hypoplasia, Cleft palate, Renal agenesis, Cleft upper lip, Hypoplastic left heart |
OMIM:236110 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Micrognathia, Microretrognathia, Hypoplastic pulmonary veins, Glossopt... |
OMIM:618021 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis, Nephrolithiasis, Vascular dilatation, Vesicoureteral reflux, Hydroureter |
OMIM:617219 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Abnormal internal genitalia, Aplasia/Hypoplasia of the radius, Intestinal malrota... |
ORPHA:2973 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... |
OMIM:613404 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis, Bifid uvula |
ORPHA:2669 |
Mmep Syndrome |
|
Ventricular septal defect, Mandibular prognathia, Cryptorchidism, Median cleft lip, Oral cleft |
ORPHA:3434 |
Marden-Walker Syndrome |
|
Hypospadias, Pyloric stenosis, Cleft palate, Renal dysplasia, Camptodactyly of finger, Abnormal a... |
ORPHA:2461 |
Cardiac Valvular Defect, Developmental |
|
Hydronephrosis, Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Mitral stenosis, Tricu... |
OMIM:212093 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Hydroureter |
OMIM:618240 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy |
OMIM:614676 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Hydronephrosis, High palate, Micrognathia, Aplasia/Hypoplasia of the m... |
OMIM:201000 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Death in infancy, Agenesis of corpus callosum |
ORPHA:85334 |
Faciocardiorenal Syndrome |
|
Horseshoe kidney, Decreased muscle mass, Cleft palate, Hypodontia, Micrognathia, Hypoplastic phil... |
OMIM:227280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... |
OMIM:613156 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst, Abnormality of the kidney, Hypogonadism |
OMIM:615987 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema |
ORPHA:1164 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:604169 |
Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognath... |
ORPHA:1919 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Atrial septal defect, Ab... |
ORPHA:1909 |
Recurrent Respiratory Papillomatosis |
|
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... |
ORPHA:60032 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis |
ORPHA:2111 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Camptodactyly of finger |
DECIPHER:70 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis, High palate, Cleft palate, Micrognathia, Hand oligodactyly, Cleft upper lip, Soli... |
OMIM:602418 |
Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect |
OMIM:607941 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, P... |
OMIM:265380 |
Meckel Syndrome, Type 7 |
|
Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Multiple glomerular cyst... |
OMIM:267010 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Ellis Van Creveld Syndrome |
|
Hypospadias, Abnormal morphology of female internal genitalia, Delayed eruption of teeth, Dextroc... |
ORPHA:289 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Dextrocardia, Situs inversus totalis, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent ur... |
OMIM:613095 |
Trisomy 1Q |
|
Ventricular septal defect, Hydronephrosis, Cleft palate, Congenital diaphragmatic hernia, Congeni... |
ORPHA:261344 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... |
OMIM:617201 |
Bazex Syndrome |
|
Liposarcoma, Neoplasm, Lung adenocarcinoma |
ORPHA:166113 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... |
ORPHA:723 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Anal atresia |
OMIM:274265 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Myopathy, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypert... |
OMIM:617713 |
Codas Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormal... |
ORPHA:1458 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
Pulmonary Hemosiderosis |
|
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage |
OMIM:178550 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia |
OMIM:619057 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... |
ORPHA:206546 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Hypogonadism, Renal ins... |
OMIM:615993 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Right ventricular hypertrophy, Macroglossia, Achilles tendon contracture, Scapular winging, EMG: ... |
ORPHA:353 |
Glioma Susceptibility 9 |
|
Leukemia, Glioma, Astrocytoma |
OMIM:616568 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Gingival bleeding, Right ventricular hypertrophy, Volvulus, Left ventri... |
ORPHA:335 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Micrognathia, Smooth philtrum, Abnormal heart morphology, Congenital diaphragmatic hernia, Bicorn... |
OMIM:263210 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Re... |
OMIM:618781 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Short distal phalanx of finger, Unil... |
OMIM:601355 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Hypospadias, Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Patent du... |
OMIM:618316 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Pancreatic adenocarcinoma, Renal cortical adenoma, Nephrolithiasis, Polycy... |
OMIM:145001 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Hydronephrosis, High palate, Hypoplastic nipples, Myelomeningocele, Micrognathia, A... |
ORPHA:2437 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, Renal dysplasia, F... |
OMIM:616733 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respiratory failur... |
ORPHA:70587 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... |
OMIM:108900 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... |
OMIM:616730 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... |
OMIM:612158 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Cleft palate, High palate, Microdontia, Short lingual frenulum, Hy... |
OMIM:614091 |
22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Cleft palate, Smooth philtrum... |
ORPHA:1727 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
Hydronephrosis, High palate, Skeletal muscle atrophy, Micrognathia, Renal atrophy, Facial hypoton... |
OMIM:618578 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dy... |
OMIM:253700 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dysplastic corpus callosum, Microcephaly |
OMIM:618276 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Left ventric... |
OMIM:615248 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency |
OMIM:601612 |
Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Encephalopathy Due To Prosaposin Deficiency |
|
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency |
ORPHA:139406 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Dysgyria, Hydrocephalus, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type... |
ORPHA:352682 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Pericardial effusion, Wide mouth, Long philtrum, Hepatosplenomegaly, Polycystic kid... |
OMIM:608776 |
Pallister-Hall Syndrome |
|
Cleft palate, Renal dysplasia, Decreased response to growth hormone stimulation test, Microglossi... |
OMIM:146510 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Fetal Akinesia Syndrome, X-Linked |
|
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth |
OMIM:300073 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Smooth philtrum, High palate, Mic... |
OMIM:610759 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... |
ORPHA:2512 |
Autosomal Recessive Centronuclear Myopathy |
|
High palate, Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular win... |
ORPHA:169186 |
Familial Visceral Myopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Aganglionic megacolon, Microg... |
ORPHA:2604 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Cleft palate, Aplasia of the uterus, Hypoparathyroidism, Abnormal heart morpholog... |
ORPHA:2237 |
Autosomal Recessive Amelia |
|
Amelia, Micrognathia, Amelia involving the upper limbs, Small scrotum, Non-midline cleft lip, Abn... |
ORPHA:1027 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic cysts, Renal dysplasia, Hepatic cysts, Bile duct proliferation, Patent d... |
OMIM:208540 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Cryptorchidism |
ORPHA:1918 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level |
OMIM:619048 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the corpus callosum, Thick cerebral cortex, Lissencephaly, Periventricular ribbonli... |
OMIM:618677 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... |
OMIM:614370 |
Endocardial Fibroelastosis |
|
Abnormal palate morphology, Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy,... |
ORPHA:2022 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Hypoplastic hippocampus, Death in infancy, Agenesis of corpus callosum, Cerebral atrophy |
OMIM:600329 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... |
ORPHA:178320 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Cleft palate, Micrognathia, Arthrogryposis multiplex congenita, Vesicoureteral re... |
OMIM:618265 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal hypoplasia, Hydronephrosis, Cleft palate, High, narrow palate, Renal agenesis, Long philtru... |
OMIM:618494 |
Bowen Syndrome Of Multiple Malformations |
|
Agenesis of corpus callosum, Death in childhood |
OMIM:211200 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Micrognathia, Cleft palate, Abnormal heart morphology, Hypoplasia of the thymus, Jo... |
OMIM:214110 |
Stankiewicz-Isidor Syndrome |
|
Hypospadias, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Pineal cyst, Mi... |
OMIM:617516 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
Macdermot-Winter Syndrome |
|
Hydronephrosis, Camptodactyly of finger, Hypoplastic male external genitalia |
OMIM:247990 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Cleft palate, Micrognathia, Malar flattening, Glossoptosis, Atrial sep... |
ORPHA:1388 |
Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Cleft palate, Hand oligodactyly, Pierre-Robin sequence |
OMIM:172880 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Skeletal muscle atrophy, Micro... |
OMIM:607598 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... |
ORPHA:254875 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Microcephaly |
OMIM:618185 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Esophageal varix, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Ren... |
OMIM:263200 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy |
OMIM:601494 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... |
OMIM:615191 |
Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Hydronephrosis, Cleft palate, High palate, Aganglionic megacolon, Ecto... |
ORPHA:2473 |
Ciliary Dyskinesia, Primary, 42 |
|
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Nasal polypo... |
OMIM:618695 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Rectovestibular fistula, Smooth philtrum, Peripheral pulmonary artery stenosis, Aortic root aneur... |
ORPHA:280633 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Image Syndrome |
|
Hypospadias, Hydronephrosis, Hypogonadism, Cryptorchidism, Micromelia |
ORPHA:85173 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613876 |
Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Microdontia, Renal agenesis, Renal malrotation, Renal dysplasia, Facia... |
OMIM:113650 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
High palate, Long philtrum, Right ventricular hypertrophy, Patent ductus arteriosus, Thin upper l... |
OMIM:613623 |
Subependymal Nodular Heterotopia |
|
Meningocele, Partial agenesis of the corpus callosum, Abnormality of neuronal migration, Myelomen... |
ORPHA:101030 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus ca... |
OMIM:618492 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Mandibular prognathia, EMG: myopathic abnormalities, Knee flexion cont... |
OMIM:619040 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Dysphagia, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal ins... |
ORPHA:266 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, High palate, Micrognathia, Long philtrum, Patent ductus arteriosus, De... |
ORPHA:261120 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the dentition, Cryptorchidi... |
OMIM:615982 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
Penile Agenesis |
|
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Hydronephrosis, Ur... |
ORPHA:49 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Torticollis, External genital hypoplasia, Patent ductus arteriosus, Pu... |
OMIM:249670 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... |
ORPHA:2590 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure, Dysphagia, Pulmonary hypoplasia |
OMIM:616867 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hydronephrosis, Cardiomyopathy, Hydroureter, Neurogenic bladder |
OMIM:222300 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Micrognathia, High palate, Persistent left superior vena cava, Double outlet right ventricle, Pat... |
ORPHA:3304 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... |
ORPHA:401935 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Anal atresia, Absent radius, Tra... |
OMIM:314390 |
Ciliary Dyskinesia, Primary, 23 |
|
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... |
OMIM:615451 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema |
OMIM:604571 |
Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... |
OMIM:614399 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... |
OMIM:616037 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Megacystis, Intestinal malrotation, Multicystic kidney dysplasia, Neoplasm of the heart, Cryptorc... |
ORPHA:2241 |
Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Bifid clitoris, Unilateral renal agenesis, Bladder exstrophy, Anteriorly placed... |
OMIM:600057 |
Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency |
ORPHA:3346 |
Cloacal Exstrophy |
|
Horseshoe kidney, Myelomeningocele, Hydroureter, Absent foot, Intestinal malrotation, Anal atresi... |
ORPHA:93929 |
Orofaciodigital Syndrome I |
|
Carious teeth, Cleft palate, High palate, Alveolar ridge overgrowth, Pancreatic cysts, Myelomenin... |
OMIM:311200 |
Sonoda Syndrome |
|
Ventricular septal defect, Narrow mouth |
OMIM:270460 |
Burn-Mckeown Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Cleft palate, Micrognathia, Short philtrum, Cleft up... |
OMIM:608572 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts, Nephropathy |
ORPHA:3033 |
Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Truncus... |
ORPHA:2516 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616681 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Pyloric stenosis, Bifid scrotum, Patent ductus arteriosus, Delayed eruption of teeth... |
OMIM:619148 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery |
OMIM:600666 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair |
|
Abnormality of the dentition, Ventricular septal defect, Micrognathia, Abnormality of the kidney |
OMIM:616901 |
Tricuspid Atresia |
|
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... |
ORPHA:1209 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Ventricular septal defect, Microg... |
OMIM:601186 |
Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death |
OMIM:245650 |
Pontocerebellar Hypoplasia, Type 15 |
|
Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hydrocephalu... |
OMIM:619302 |
Raine Syndrome |
|
Hydronephrosis, Cleft palate, High palate, Microdontia, Wide mouth, Micrognathia, Mandibular prog... |
OMIM:259775 |
Heterotaxy, Visceral, 8, Autosomal |
|
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... |
OMIM:617205 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Increased muscle lipid content, Hydro... |
OMIM:608836 |
Truncus Arteriosus |
|
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... |
ORPHA:3384 |
Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... |
OMIM:612387 |
Fetal Trimethadione Syndrome |
|
Hypospadias, Ventricular septal defect, High palate, Micrognathia, Transposition of the great art... |
ORPHA:1913 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Delay... |
ORPHA:2863 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Meckel Syndrome 12 |
|
Renal hypoplasia, Micrognathia, Renal agenesis, Bifid uvula, Arthrogryposis multiplex congenita, ... |
OMIM:616258 |
Hadziselimovic Syndrome |
|
Thick lower lip vermilion, Renal hypoplasia, Ventricular septal defect, High palate, U-Shaped upp... |
OMIM:612946 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Intestinal malrotation |
OMIM:249210 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy |
OMIM:616974 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Respiratory insufficiency |
ORPHA:2432 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Agenesis of corpus callosum, Microlissencephaly, Microcephaly |
OMIM:617090 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Hypospadias, Abnormality of the philtrum, Ambiguous genitalia, Tetralogy of Fallot, Abnormality o... |
ORPHA:276422 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Thick lower lip vermilion, Ventricular septal defect, Micrognathia, Short philtrum, Atrial septal... |
OMIM:608227 |
Microphthalmia, Lenz Type |
|
Hypospadias, Hydronephrosis, Delayed eruption of teeth, Abnormality of dental morphology, Renal h... |
ORPHA:568 |
Double Outlet Right Ventricle |
|
Ventricular septal defect, Cleft palate, Truncus arteriosus, Hypoparathyroidism, Submucous cleft ... |
ORPHA:3426 |
X-Linked Intellectual Disability, Schimke Type |
|
Ankle flexion contracture, Hydronephrosis, High palate, Hip contracture, Knee flexion contracture... |
ORPHA:85285 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Myocardial fibrosis, Cardiomyopathy |
OMIM:613873 |
Nemaline Myopathy 8 |
|
Respiratory failure, Dysphagia, Death in infancy |
OMIM:615348 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... |
ORPHA:133 |
Trisomy 13 |
|
High, narrow palate, Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Cleft ... |
ORPHA:3378 |
Caudal Regression Sequence |
|
Decreased muscle mass, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Hypoplast... |
ORPHA:3027 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Mitral atresia, Double... |
OMIM:306955 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Maternal Phenylketonuria |
|
Ventricular septal defect, High palate, Micrognathia, Long philtrum, Double outlet right ventricl... |
ORPHA:2209 |
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia |
|
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum |
OMIM:619501 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal palate morphology, Micrognathia, Abnormal mitral valve morphology, Mesomelia, Tooth agen... |
ORPHA:1277 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly |
OMIM:619466 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401830 |
Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... |
OMIM:612649 |
Fryns Syndrome |
|
Hypospadias, Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic mor... |
ORPHA:2059 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Aganglionic megacolon, Duodenal... |
ORPHA:210122 |
Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... |
OMIM:616481 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, High palate, Micrognathia, Patent ductus arteriosus, Micropenis, Atria... |
OMIM:618142 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... |
OMIM:300770 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... |
OMIM:616898 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Congenital diaphragmatic hernia... |
OMIM:615524 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Reticular pattern on pulmon... |
ORPHA:99931 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Microcephaly |
OMIM:618572 |
Acrorenal Syndrome |
|
Micrognathia, Cleft palate, Aplasia/Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormal ... |
ORPHA:971 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Nephrolithiasis, Left ventricular hypertrop... |
OMIM:615474 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... |
ORPHA:86812 |
Say Syndrome |
|
Cystic renal dysplasia, Micrognathia, Cleft palate, Proximal renal tubular acidosis, Short distal... |
OMIM:181180 |
Diamond-Blackfan Anemia 6 |
|
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Micrognathia, Cleft upper lip, Ve... |
OMIM:612561 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... |
ORPHA:85179 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Absent tibia, Hamartoma of tongue, Cleft upper lip, Renal dysplasia, Fibular hypopl... |
OMIM:613091 |
Suleiman-El-Hattab Syndrome |
|
Thick lower lip vermilion, Ventricular septal defect, Smooth philtrum, Hydronephrosis, High palat... |
OMIM:618950 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay |
|
Hypospadias, Ventricular septal defect, High palate, Cleft palate, Micrognathia, Rhizomelia, Micr... |
OMIM:617164 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... |
ORPHA:1528 |
Oeis Complex |
|
Ambiguous genitalia, female, Absence of the sacrum, Ambiguous genitalia, male, 11 pairs of ribs, ... |
OMIM:258040 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:401820 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Carious teeth, Cleft palate, Hypoplastic nipples, Renal dysplasia, Megacystis, Malar flattening, ... |
OMIM:604292 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Lissencephaly, Agenesis of corpus callosum, Agyria, Microcephaly |
OMIM:616342 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Short lingual frenulum, Renal agenesis,... |
ORPHA:2326 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Cleft palate, Ectopic anus, Short philtrum, Mandibular prognathia, Mal... |
ORPHA:94066 |
Distal Monosomy 12Q |
|
Pyloric stenosis, Smooth philtrum, Short middle phalanx of finger, Duodenal atresia, Microglossia... |
ORPHA:96149 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Lissencephaly, Agenesis of corpus callosum, Absent septum pellucidum |
OMIM:218670 |
Serkal Syndrome |
|
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Sex reversal, ... |
ORPHA:139466 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis, Cleft palate, Short philtrum, Tented upper lip vermilion, Abnormal c... |
OMIM:616449 |
Femoral-Facial Syndrome |
|
Cleft palate, Truncus arteriosus, Smooth philtrum, Micropenis, Thin upper lip vermilion, Short hu... |
OMIM:134780 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, Hepatomegaly, High palate, Microdontia, Wide mouth, Macroglossia, Nephronoph... |
OMIM:266920 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Micrognathia, Abnormality of the ureter, Thin vermilion border, Splenomegaly, Renal ... |
ORPHA:1046 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Micrognathia, Shawl scrotum, Aplasia of the proximal... |
ORPHA:2256 |
Ciliary Dyskinesia, Primary, 18 |
|
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insuffic... |
OMIM:614874 |
Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... |
ORPHA:449280 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
Lissencephaly 6 With Microcephaly |
|
Partial agenesis of the corpus callosum, Microlissencephaly, Periventricular heterotopia, Simplif... |
OMIM:616212 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Short toe |
OMIM:615297 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Hydronephrosis, Myelomeningocele, Ureteral atresia, Abnormality of the diaphragm |
OMIM:183802 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly |
OMIM:614833 |
Renal Agenesis |
|
Ventricular septal defect, Renal agenesis, Aplasia/hypoplasia of the uterus, Aplasia/Hypoplasia o... |
ORPHA:411709 |
Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Microcephaly, Cerebral calcification |
ORPHA:1980 |
Atrial Fibrillation, Familial, 10 |
|
Left atrial enlargement, Left ventricular hypertrophy |
OMIM:614022 |
Penoscrotal Transposition |
|
Hypospadias, Micrognathia, Abnormality of the ureter, Renal agenesis, Patellar aplasia, Renal dys... |
ORPHA:2842 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Long philtrum, Persistent left... |
ORPHA:477817 |
Fanconi Anemia |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Cleft palate, Duodenal stenosis, Aplasia/Hypoplasia o... |
ORPHA:84 |
Mckusick-Kaufman Syndrome |
|
Hydrometrocolpos, Hydronephrosis, Aganglionic megacolon, Vesicovaginal fistula, Rectovaginal fist... |
OMIM:236700 |
3C Syndrome |
|
Hypospadias, High, narrow palate, Ventricular septal defect, Hydronephrosis, Cleft palate, Hypopl... |
ORPHA:7 |
Phelan-Mcdermid Syndrome |
|
Widely spaced teeth, Ventricular septal defect, High palate, Micrognathia, Long philtrum, Abnorma... |
OMIM:606232 |
Epidermodysplasia Verruciformis, X-Linked |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:305350 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cleft palate, Gonadal dysgenesis, male, Congenital diaphragmatic herni... |
ORPHA:2075 |
Odontochondrodysplasia 1 |
|
Long philtrum, Nephronophthisis, Delayed eruption of teeth, Polycystic kidney dysplasia, Short me... |
OMIM:184260 |
Bor Syndrome |
|
Hydronephrosis, Cleft palate, Facial palsy, Multicystic kidney dysplasia, Renal hypoplasia/aplasi... |
ORPHA:107 |
Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... |
OMIM:615500 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Cleft palate, Hamartoma of tongue, Microglossia, Disproportionate shor... |
OMIM:263520 |
Short Rib-Polydactyly Syndrome |
|
Hypospadias, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft lip, Short tibia, Hypoplas... |
ORPHA:1505 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypospadias, Abnormal palate morphology, Anal atresia, Tetralogy of Fallot, Cryptorchidism, Hypop... |
ORPHA:1381 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... |
OMIM:618348 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... |
OMIM:300991 |
Simpson-Golabi-Behmel Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Splenomegaly, Ca... |
ORPHA:373 |
Meckel Syndrome, Type 1 |
|
Cleft palate, Ambiguous genitalia, female, Patent ductus arteriosus, Splenomegaly, Ambiguous geni... |
OMIM:249000 |
Noonan Syndrome 8 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... |
OMIM:615355 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Abnormality of the ureter, High palate, Renal agenesis, Aplasia of the bladder, Hyp... |
OMIM:200980 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Death in childhood |
OMIM:613163 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Long philtrum, Short foot, Atrial septal defect, Narrow mouth, Everted... |
ORPHA:228399 |
Mesomelic Limb Shortening And Bowing |
|
Micrognathia, Cleft palate, Mesomelic leg shortening, Mesomelic arm shortening, Camptodactyly of ... |
OMIM:249710 |
Hemimegalencephaly |
|
Hemimegalencephaly, Abnormal neuron morphology, Pachygyria, Polymicrogyria, Gray matter heterotop... |
ORPHA:99802 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Upper limb undergrowth, Congenital megaureter, Renal dysplasia, Malar flattening, Patent ductus a... |
ORPHA:369837 |
Beaulieu-Boycott-Innes Syndrome |
|
Carious teeth, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Patent ductus arterio... |
OMIM:613680 |
Ciliary Dyskinesia, Primary, 15 |
|
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... |
OMIM:613808 |
Tetraploidy |
|
Hydronephrosis, Cleft palate, Micrognathia, Short philtrum, Renal hypoplasia/aplasia |
ORPHA:3305 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... |
ORPHA:75566 |
Heterotaxy, Visceral, 5, Autosomal |
|
Duodenal atresia, Single ventricle, Absence of the sacrum, Patent ductus arteriosus, Dextrocardia... |
OMIM:270100 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Hydronephrosis, Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Intestinal mal... |
ORPHA:457193 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... |
OMIM:267450 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal dysplasia, Renal cyst, Arthrogryposis multiplex congenita, Ureteral agene... |
OMIM:236500 |
Faciothoracogenital Syndrome |
|
Micrognathia, Smooth philtrum, Long philtrum, Prominent scrotal raphe, Thin upper lip vermilion, ... |
OMIM:227320 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Cleft palate... |
OMIM:235255 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... |
OMIM:217095 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydronephrosis, Ureteral duplication, Cleft palate, High palate, Micrognathia, Long philtrum, Con... |
OMIM:614080 |
Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Respiratory failure, Dyspnea |
ORPHA:70578 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Long philtrum, Patent ductus arteriosus, Micropenis, Atrial septal def... |
OMIM:619189 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Hydronephrosis, Cleft palate, Smooth philtrum, Wide mouth, Short philtrum, Micr... |
OMIM:618454 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia, Ambiguous genitalia, Limb undergrowth |
OMIM:614209 |
Familial Adenomatous Polyposis 1 |
|
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... |
OMIM:175100 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, S... |
ORPHA:255138 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter, Renal cyst |
OMIM:138790 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion |
OMIM:119540 |
Cleft Palate-Lateral Synechia Syndrome |
|
Micrognathia, Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
Chromosome 18P Deletion Syndrome |
|
Micrognathia, High palate, Tooth malposition, Micropenis, Cryptorchidism, Decreased testicular si... |
OMIM:146390 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Floating-Harbor Syndrome |
|
Hypospadias, Carious teeth, Oligodontia, 11 pairs of ribs, Hypoplasia of the maxilla, Dilatation ... |
ORPHA:2044 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... |
ORPHA:2004 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspne... |
OMIM:610910 |
Verheij Syndrome |
|
Renal hypoplasia, Renal agenesis, Long philtrum, Renal cyst, Short 5th finger, Abnormal cardiac s... |
OMIM:615583 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... |
ORPHA:3270 |
Koolen-De Vries Syndrome |
|
Hypospadias, Bicuspid aortic valve, Ureteral duplication, Hydronephrosis, Pyloric stenosis, Cleft... |
ORPHA:96169 |
Alagille Syndrome 2 |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal ... |
OMIM:610205 |
Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Cardiomyopathy, Left ventricular hypertrophy, Pituitary ad... |
OMIM:102200 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Abnormality of the kidney |
OMIM:613730 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly |
OMIM:304100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Megacystis, Intestinal malrotation, Hydroureter, Microcolon |
OMIM:619431 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Hypodontia, Megarectum, Dou... |
OMIM:301056 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Micrognathia, Missing ribs, Short ribs, Intestinal malrotation, Polycystic kidney dysplasia, Thin... |
OMIM:617866 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Renal agenesis, Absent radius, Vascular dilatation, Absen... |
OMIM:602200 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Smooth philtrum, Rectal prolapse, Oligodontia, Malar flattening, Joint contracture of the hand, D... |
OMIM:235510 |
Cantu Syndrome |
|
Thick lower lip vermilion, Bicuspid aortic valve, Pericardial effusion, Long philtrum, Cardiomega... |
OMIM:239850 |
Pallister-Hall-Like Syndrome |
|
Micrognathia, Cleft palate, Abnormal heart morphology, Renal dysplasia, Microglossia, Short ribs,... |
OMIM:241800 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle |
OMIM:618254 |
Caudal Duplication Anomaly |
|
Ureteral duplication, Uterus didelphys |
OMIM:607864 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy |
OMIM:614654 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxil... |
OMIM:246560 |
Emanuel Syndrome |
|
Renal hypoplasia, Ventricular septal defect, Cleft palate, Truncus arteriosus, High palate, Renal... |
OMIM:609029 |
Meacham Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Hydrometrocolpos, Aortic valve steno... |
ORPHA:3097 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... |
ORPHA:1686 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 5th finger, Short thumb, Intestinal atresi... |
OMIM:614326 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Carious teeth, Smooth philtrum, Patent ductus arteriosus, Micropenis, Premature ovar... |
ORPHA:363444 |
Feingold Syndrome Type 1 |
|
Short middle phalanx of finger, Tricuspid stenosis, Duodenal atresia, Renal dysplasia, Multiple m... |
ORPHA:391641 |
Caudal Duplication |
|
Ureteral duplication, Abnormal penis morphology, Myelomeningocele, Uterus didelphys, Renal hypopl... |
ORPHA:1756 |
Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... |
ORPHA:244 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... |
ORPHA:3092 |
Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... |
ORPHA:3208 |
Chand Syndrome |
|
Cleft palate, Imperforate hymen, Short fifth metatarsal, Bifid tongue, Abnormal oral frenulum mor... |
ORPHA:1401 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Microlissencephaly, Primary microcephaly, 4-layered lissenceph... |
ORPHA:89844 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, High, narrow palate, Hydronephrosis, Micrognathia, Wide mouth, Long philtrum, Abnor... |
ORPHA:96092 |
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Dysplastic corpus callosum, Anterior hypopituitarism |
OMIM:601016 |
Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, High palate, Diastema, Short philtrum, Micrognathia, Patent ductus arteriosus, Cr... |
OMIM:609757 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... |
ORPHA:454840 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Hepatomegaly, High, narrow palate, Myoglobinuria, Tubulointerstitial neph... |
ORPHA:228308 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Megacystis, Fetal megacystis, Hydroureter, Microcolon |
OMIM:619362 |
Paraneoplastic Pemphigus |
|
Sarcoma, B-cell lymphoma, Thymoma |
ORPHA:63455 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Lambert Syndrome |
|
Hypospadias, Ventricular septal defect, Malar flattening, Wide mouth |
ORPHA:1296 |