Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
forkhead box M1
Synonyms:
WIN,  Fkh16,  Trident,  Mpm2,  Foxm1b,  HFH-11B

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Foxm1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Foxm1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lethal Congenital Contracture Syndrome 3
Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Neonatal death, ... OMIM:611369
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hepatom... OMIM:619462
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic reducing inclusion ... OMIM:300717
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Respiratory insufficiency, Death in childhood, Spinal mu... OMIM:253300
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ... OMIM:619433
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Respiratory insufficiency, Multiple joint contractures, Distal arthrogry... OMIM:614915
Nemaline Myopathy 8
Nemaline bodies, Myofibrillar myopathy, Death in infancy, Flexion contracture, Facial palsy, Resp... OMIM:615348
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Muscular dystrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Respiratory insufficiency, Death in childhood, Spinal muscular atrophy, ... OMIM:616081
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Transaldolase Deficiency
Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta, Cirrhosis, A... ORPHA:101028
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... ORPHA:2414
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp... OMIM:232500
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Death in childhood, Death in inf... OMIM:619334
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Hereditary Butyrylcholinesterase Deficiency
Abnormality of the liver, Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Splenomegaly, Nonimmune hydrops fetalis, Joint contracture, Hepatomegaly, Flexion... OMIM:608540
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Muscular Dystrophy, Congenital, 1B
Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakness, Pectoralis a... OMIM:604801
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hepatocellular necrosis, Cholestasis, Oligohydramnios, Nonimmu... OMIM:231100
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching OMIM:606217
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Abnormality of the spleen, Splenomegaly, Decreased fetal move... ORPHA:85212
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... OMIM:602347
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fe... ORPHA:163596
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Hydrops fetalis, Polyhydramnios, Splenomegaly ORPHA:2204
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Hepatomegaly, Hydrops fetalis, Patent ductus arteriosus, Premature birth ORPHA:2123
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ... ORPHA:1166
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Camptodactyly of finger, Respiratory insufficienc... OMIM:614399
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... OMIM:613812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... ORPHA:367
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Hydrops fetalis, Pre... OMIM:269920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ... OMIM:253700
Sialidosis Type 2
Skeletal muscle atrophy, Ascites, Splenomegaly, Hepatomegaly, Flexion contracture, Hydrops fetali... ORPHA:87876
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Sp... OMIM:256550
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Limb muscle weakness, Respiratory failure, Hand muscle atrophy OMIM:600561
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Fetal akinesia sequence, Bra... OMIM:618815
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Porta... OMIM:267010
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers OMIM:616794
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Tetralogy of Fallot, Right aortic arch, Pulmonary artery atre... OMIM:618780
Nphp3-Related Meckel-Like Syndrome
Oligohydramnios, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Polyhyd... ORPHA:3032
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Resp... ORPHA:171433
Tricuspid Atresia
Pulmonary artery atresia, Coarctation of aorta, Transposition of the great arteries, Persistent l... ORPHA:1209
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Respiratory failure, Death in infancy OMIM:225753
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory insufficiency, Reduced muscle fiber alpha dystrogly... ORPHA:370968
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Neonatal respiratory distress, Skeletal muscle at... OMIM:616867
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat... OMIM:619386
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy, Ventricular septal defect OMIM:616277
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Fetal chylothorax, Lymphedema,... OMIM:620014
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Stillbirth, Respiratory failure, Respiratory insufficiency OMIM:276950
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Congenital Enterovirus Infection
Hypotension, Hepatic failure, Fetal ascites, Hepatitis, Cardiomyopathy, Fetal distress, Cholestas... ORPHA:292
Chondrodysplasia, Blomstrand Type
Fetal ascites, Preductal coarctation of the aorta, Stillbirth, Polyhydramnios, Hydrops fetalis, P... OMIM:215045
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Facial diplegia, Neonatal death, Respiratory insufficiency due to muscle... OMIM:611890
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Abnormal heart morphology,... ORPHA:1041
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentration, Respiratory failure ORPHA:890
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Hydrops... OMIM:601927
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Mulibrey Nanism
Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Hydrops ... OMIM:253250
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure, Upper limb muscle weakness, Lower limb muscle weakness, Respiratory failure ... ORPHA:90117
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium OMIM:613759
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... OMIM:609015
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... OMIM:618773
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Congestive heart failure, Hypersplenism, Hepatosplenomegaly, P... ORPHA:846
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Singl... ORPHA:3405
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Respiratory insufficiency, Myopathy, Weakness of facial musculature, Spi... ORPHA:254875
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Elevated circu... OMIM:245400
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatomegaly, Hydrop... ORPHA:834
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:619003
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Intellectual Developmental Disorder, Autosomal Recessive 47
Mitral valve prolapse OMIM:616193
Hyperekplexia 4
Camptodactyly, Flexion contracture, Respiratory failure, Distal arthrogryposis OMIM:618011
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... OMIM:153100
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... OMIM:613027
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Decreased liver function, Ascit... OMIM:617021
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Mitral Valve Prolapse 2
Mitral regurgitation, Mitral valve prolapse OMIM:607829
Mitral Valve Prolapse 3
Mitral regurgitation, Mitral valve prolapse OMIM:610840
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis,... OMIM:178600
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation, Hepatomegaly OMIM:607361
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Achondrogenesis, Type Ib
Breech presentation, Stillbirth, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... ORPHA:443167
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Shoulder girdle musc... OMIM:606612
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Decreased liver function, Death in childhood, Myopathy, Neonatal death, Death in ... OMIM:614922
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus OMIM:601612
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Spondylometaphyseal Dysplasia, X-Linked
Knee flexion contracture, Respiratory failure, Hip contracture, Respiratory insufficiency OMIM:313420
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Tetralogy of Fallot, Right aortic arch, Coarctation of a... OMIM:613854
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Aplasia/Hyp... ORPHA:1926
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Distal lower limb muscle weakness, Descending aortic dissection, Small thenar eminence, Ascending... OMIM:620080
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Ventricular Septal Defect 3
Pulmonary artery stenosis, Patent ductus arteriosus OMIM:614432
Long-Olsen-Distelmaier Syndrome
Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defect, Congestive... OMIM:620609
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Abnorm... ORPHA:1194
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Respi... ORPHA:352447
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Congenital Disorder Of Glycosylation, Type Il
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Atrial septal defect, Hepatome... OMIM:608776
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness ORPHA:2590
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Ascites, Elevated circulating aspartate aminotransferase concentration, Pleural ... OMIM:617049
Immunodeficiency 95
Respiratory failure OMIM:619773
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Premature birth OMIM:618839
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism, Aplasia/Hypoplasia of the ... ORPHA:1263
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis,... OMIM:618835
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Cherry red spot of the macula, Hypertrophic cardiomyopathy, Congestive he... OMIM:230500
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Dubin-Johnson Syndrome
Jaundice, Biliary tract abnormality OMIM:237500
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory insufficiency, Hypertrophic cardiomyopathy, Death in infancy,... OMIM:614299
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Cholecystitis, Nonimmune hydrops fetalis, Hepatomegaly, Jaundice OMIM:266200
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Prolonged neonatal jaundice, Hydrops fetalis, Splenomegaly ORPHA:766
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Respiratory failure, EMG: myopathic abnormalities OMIM:620326
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Arthrogryposis multip... OMIM:607598
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Hamstring contractures, Knee flexion ... OMIM:310200
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopathy, Hepatic steatos... ORPHA:70472
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Abnormal aortic arch morphology, Arteria lusoria, Anomalous origin of right pulmonary artery from... ORPHA:99050
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Hydrocele testis, Hydrops fetalis OMIM:616738
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Congestive heart failure, Lymphedema, Abnorma... ORPHA:137667
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Pleural effusion, Plantar te... ORPHA:69735
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... OMIM:301068
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Respiratory failure OMIM:263000
Alg1-Cdg
Abnormal heart morphology, Decreased liver function, Respiratory failure, Cardiomyopathy ORPHA:79327
Congenital Rubella Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery ORPHA:290
Caroli Syndrome
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... ORPHA:480520
Aorto-Ventricular Tunnel
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... ORPHA:3400
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure OMIM:619057
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Myopathy, Cirrhosis, Hepatomegaly, Respiratory failure ORPHA:363400
Alg8-Cdg
Elevated circulating hepatic transaminase concentration, Ascites, Oligohydramnios, Camptodactyly,... ORPHA:79325
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:610127
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abno... ORPHA:88618
Galactosialidosis
Conjunctival telangiectasia, Hepatosplenomegaly, Nonimmune hydrops fetalis, Cherry red spot of th... OMIM:256540
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Bilateral superior vena cava, Dextrotransposition of the... OMIM:613751
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Lymphedema, Portal hypertension, Splenomegaly, Neonatal cholestatic ... ORPHA:1414
Mucopolysaccharidosis Type 7
Arteriovenous malformation, Hepatitis, Lymphedema, Ascites, Splenomegaly, Hydrops fetalis ORPHA:584
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Facial diplegia, Neonatal death, Hypomimic face, Limb joint contractur... OMIM:618186
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Lymphatic Malformation 13
Fetal pericardial effusion, Hydrocele testis, Lymphedema, Ascites, Mitral regurgitation, Patent f... OMIM:620244
Achondrogenesis
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:932
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Camptodactyly of finger, Limb muscle weakness, S... OMIM:604320
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory insufficiency, Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricu... ORPHA:308552
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ascites, Pleural effusion, Ventricular septal defect, Cardiomegaly, ... OMIM:616897
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Campomelia, Cumming Type
Lymphedema, Oligohydramnios, Hydrops fetalis, Hepatomegaly, Pancreatic cysts, Abnormality of the ... ORPHA:1318
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Jaundice, Pancreatitis, ... ORPHA:521219
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of right pulmonary artery from a... OMIM:610338
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Farber Disease
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Skele... ORPHA:333
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Situ... OMIM:608647
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Pulmonary artery atresia, Left ventricular hypertrophy OMIM:108900
Achondrogenesis Type 1B
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93298
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Abno... ORPHA:171430
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Mosaic Trisomy 9
Camptodactyly of finger, Abnormal heart valve morphology, Oligohydramnios, Endocardial fibroelast... ORPHA:99776
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Achondrogenesis Type 1A
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold ORPHA:93299
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary... OMIM:265380
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Gm1 Gangliosidosis
Cardiomyopathy, Cherry red spot of the macula, Congestive heart failure, Abnormal heart morpholog... ORPHA:354
Triosephosphate Isomerase Deficiency
Cholelithiasis, Skeletal muscle atrophy, Respiratory insufficiency, Cholecystitis, Myopathy, Deat... OMIM:615512
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Respiratory failure, Respiratory insufficiency OMIM:609981
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu... OMIM:265300
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Autosomal Recessive Polycystic Kidney Disease
Hepatic fibrosis, Gastrointestinal hemorrhage, Periportal fibrosis, Cholestasis, Ascites, Hepatos... ORPHA:731
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ... ORPHA:562639
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Patent ductus arte... ORPHA:2248
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Nonimmune hydrops fet... OMIM:620167
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Hypoplasia of ... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Death in infancy OMIM:610678
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Edema, Decreased liver function ORPHA:79278
Meckel Syndrome, Type 6
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Bile duct proliferation, Cystic liver disease OMIM:612284
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency OMIM:615330
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Truncus Arteriosus
Interrupted aortic arch, Pulmonary artery hypoplasia, Arteria lusoria, Abnormal coronary artery m... ORPHA:3384
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Respiratory failure ORPHA:2254
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect OMIM:611134
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Respiratory insufficiency, Cholestasis, Rhabdomyolysi... ORPHA:746
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Oligohydramnios, Ventricular septal defect, Fetal... OMIM:617022
Chromosome 6Q24-Q25 Deletion Syndrome
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... OMIM:612863
Gaucher Disease, Perinatal Lethal
Hepatic failure, Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Polyhydramni... OMIM:608013
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Decreased liver function, Hypertrophic cardiomyopathy, Death in childhood, Weakness of facial mus... OMIM:220110
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Leigh Syndrome, Nuclear
Hepatocellular necrosis, Respiratory failure, Respiratory insufficiency OMIM:256000
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation OMIM:610688
Trisomy 1Q
Camptodactyly of finger, Increased nuchal translucency, Cryptorchidism, Congenital diaphragmatic ... ORPHA:261344
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Dextrocardia
Abnormal pulmonary situs morphology, Congenital malformation of the great arteries, Abnormality o... ORPHA:1666
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Respiratory failure, Right ventricular... ORPHA:444013
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Cranioectodermal Dysplasia 2
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c... OMIM:618329
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Cholestasis, Congenital hepatic fibrosis, Ventricular s... OMIM:619534
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Skeletal muscle atrophy, Elevated circulating hepatic transaminase conc... ORPHA:26791
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure OMIM:605711
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Arteria lusoria, Truncus arteriosus, Transposition of the gre... OMIM:620294
Congenital Myopathy 22B, Severe Fetal
Hypoplasia of the musculature, Shoulder flexion contracture, Ascites, Elbow flexion contracture, ... OMIM:620369
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Respiratory failure OMIM:620296
D-Bifunctional Protein Deficiency
Fetal ascites, Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Ch... OMIM:261515
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion... ORPHA:70
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Dilated cardiomyopathy, Elevated circulating hepatic transaminase ... OMIM:608836
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Trisomy 13
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, Patent ductus a... ORPHA:3378
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatic fibrosis, Periorbital edema, Premature birth, Parotitis, Cholestasis, Elevated circulatin... OMIM:620376
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Biliary atresia, Myositis, Calf... ORPHA:565899
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Death in infancy OMIM:614862
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Coarctation of aorta, Recurrent bronchiolitis OMIM:616069
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Congenitally corrected transposition of the great arteries wi... OMIM:617205
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Stroke... OMIM:212065
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Abnormal hemidiaphragm morphology, Pneumothorax, Recurrent ... ORPHA:2257
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, Polyhydramnios, Facial diplegia, Decreased fetal movement, First ... OMIM:160900
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, S... OMIM:607625
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Lymphedema, Venous insufficiency ORPHA:33276
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Respiratory failure ORPHA:99931
Alg9-Cdg
Periportal fibrosis, Hypoplasia of the musculature, Tricuspid regurgitation, Abnormal heart morph... ORPHA:79328
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic root aneurysm, Emphysema, Aortic atherosclerotic lesion, Abnormality of the pulmonary arte... ORPHA:363618
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr... OMIM:153400
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Cherry red spot of the macula, Hepatosplenomegaly, Hydrops fetalis, Macroglossia,... ORPHA:79255
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Polysplenia, Atrial situs ambiguous, Abnormal heart morphology, Ab... ORPHA:244
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Pancreatic c... ORPHA:51608
Scleromyxedema
Abnormal pulmonary artery morphology, Abnormal coronary artery morphology, Transient ischemic att... ORPHA:167635
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hepatic fibrosis, Hydrops fetalis OMIM:614091
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Transudative pleural effusion ORPHA:284227
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Hyperbiliverdinemia
Cholestasis, Cholelithiasis, Decreased liver function OMIM:614156
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Tricuspid regurgitation, Retinal arterial tortuosity, Cryptorchidi... OMIM:620371
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi... OMIM:211600
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Prolonged neonatal jaundice, Hydrops fetalis, Splenomegaly OMIM:224120
Hadziselimovic Syndrome
Tetralogy of Fallot, Pulmonary artery atresia OMIM:612946
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency due to muscle wea... OMIM:618291
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Edema OMIM:177000
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Hepatomegaly, Mac... OMIM:253220
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Hereditary Elliptocytosis
Cholelithiasis, Splenomegaly, Prolonged neonatal jaundice, Jaundice, Hydrops fetalis ORPHA:288
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Pulmonary arterial hyp... ORPHA:77261
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormal sweat gland morphology, Predominantly lower limb lymphedema, Palmar telangiectasia, Noni... OMIM:607823
Nephronophthisis 2
Situs inversus totalis, Respiratory failure, Respiratory insufficiency OMIM:602088
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure, Hypoglycosylation of alpha-dystroglycan OMIM:620166
Snakebite Envenomation
Muscle fiber necrosis, Respiratory failure, Rhabdomyolysis ORPHA:449285
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema, Stillbirth OMIM:200610
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated circulating hepatic transaminase concentration OMIM:300752
Milroy Disease
Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Varicose veins, Hydr... ORPHA:79452
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:613673
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hepatic fibrosis, Jaundice, Pancreatic fibrosis, Pulmonary insufficiency, Polycystic liver diseas... OMIM:208500
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... OMIM:615415
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Agenesis of pulmonary vessels, Diaphragmatic event... OMIM:601186
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Anasarca, Decreased liver function, Dila... OMIM:613658
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Decreas... ORPHA:699
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, De... ORPHA:860
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Splenomegaly OMIM:224100
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Fetal distress, Elbow flexion contracture, Polyhydramnios, Hip contracture, Microvesicular hepati... OMIM:300868
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Respiratory insufficiency, Concentric hypertrophic cardiomyopathy, Death ... OMIM:610505
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Camptodactyly of finger ORPHA:2876
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly, Resp... OMIM:618804
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... ORPHA:53035
Greenberg Dysplasia
Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Polyhydramnios, Pancreatic isl... OMIM:215140
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Retinal telan... ORPHA:774
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Pagod Syndrome
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnorma... ORPHA:991
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Flexion contracture, Distal amyotrophy, Respiratory failure OMIM:616505
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Ri... OMIM:616749
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory failure, Respiratory insufficiency OMIM:613845
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Joint contracture of the hand, Intestinal lymphangiectasia, Lymphedema, Pleural effusion, Cryptor... OMIM:235510
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Hematochezia, Giant cell hepatitis, Elevated circulating hepatic trans... ORPHA:79095
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Mucoid extracellular matrix accumulatio... ORPHA:91387
Avian Influenza
Elevated circulating hepatic transaminase concentration, Hepatitis, Rhabdomyolysis, Respiratory f... ORPHA:454836
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Dyssegmental Dysplasia, Silverman-Handmaker Type
Increased placental thickness, Abnormal heart morphology, Cryptorchidism, Single umbilical artery... ORPHA:1865
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Metatropic Dysplasia
Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuffi... OMIM:156530
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Spinocerebellar Ataxia Type 1
Abnormality of masticatory muscle, Skeletal muscle atrophy, Respiratory failure ORPHA:98755
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Abnormal lung lobati... OMIM:208530
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Aortic dissection, Mitral regurgitation, Mitral valve prolapse, Pulmonar... OMIM:175050
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Truncus arteriosus ORPHA:401935
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... OMIM:208085
Congenital Syphilis
Hepatosplenomegaly, Large placenta, Prolonged neonatal jaundice, Pancreatitis, Myocarditis, Hydro... ORPHA:499009
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Cholestasis, Benign Recurrent Intrahepatic, 2
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice OMIM:605479
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Strok... ORPHA:79282
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death OMIM:265120
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis, Congestive heart failure OMIM:166210
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Telangiectasia of extensor s... OMIM:137940
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Camptodactyly of finger, Large placen... OMIM:249000
Conotruncal Heart Malformations
Coarctation of aorta, Transposition of the great arteries, Double outlet right ventricle, Truncus... OMIM:217095
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Patent foramen ovale, Limb hypertonia, Atrial septal defect, Limb joint contracture, Respiratory ... OMIM:620327
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Congenital diaphragmatic hernia, Coarctation of aorta, Aplasia/Hypoplasia... ORPHA:1120
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Hypoplastic nipples, Arrhythmia, Hydrops fe... ORPHA:79329
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Aortic atherosclerotic lesion, Cholestasis, Cholesterol galls... ORPHA:209902
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Increased nuchal tran... OMIM:605275
Gaucher Disease
Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatic failure, Hepatitis, Cherr... ORPHA:355
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Respiratory failure, ... ORPHA:445038
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema ORPHA:75508
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Tricuspid regurgitation, Ventricular septal defect, Atrial septal defect, Pancr... OMIM:263520
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Platyspondylic Dysplasia, Torrance Type
Polyhydramnios, Hydrops fetalis ORPHA:85166
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... OMIM:557000
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Respiratory insufficiency, Muscl... ORPHA:258
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... ORPHA:210122
Asbestos Intoxication
Cor pulmonale, Respiratory failure, Myocardial fibrosis ORPHA:2302
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Splenomegaly, Respiratory failure ORPHA:3226
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Ventricular septal defec... ORPHA:436252
Fibrochondrogenesis 1
Joint contracture of the hand, Patent foramen ovale, Stillbirth, Camptodactyly, Hydrops fetalis OMIM:228520
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Double outlet right ventricle, Pulmonary artery atresia, Recurrent respirato... OMIM:618316
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Ventricular septal defect OMIM:617895
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly ORPHA:848
Noonan Syndrome With Multiple Lentigines
Scapular winging, Aplasia/Hypoplasia of the abdominal wall musculature, Vascular dilatation, Abno... ORPHA:500
Cirrhosis, Familial
Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhosis, Pulmonary arterial hypertension, J... OMIM:215600
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Cirrhosis, Facial telangiectasia, C... OMIM:600376
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy, Respiratory failure OMIM:616538
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Achondrogenesis, Type Ia
Increased nuchal translucency, Absence of stomach bubble on fetal sonography, Stillbirth, Polyhyd... OMIM:200600
Double Outlet Right Ventricle
Tetralogy of Fallot, Truncus arteriosus, Coarctation of aorta, Double outlet right ventricle, Pul... ORPHA:3426
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood OMIM:615838
Meacham Syndrome
Diaphragmatic eventration, Aplasia of the right hemidiaphragm, Tetralogy of Fallot, Congenital al... OMIM:608978
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Respiratory insufficiency, Hepatocellular necrosis, Hepatosplenomegaly, ... OMIM:618278
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Shoulder girdle muscle w... ORPHA:2020
Niemann-Pick Disease Type C
Hepatic failure, Fetal ascites, Ascites, Hepatosplenomegaly, Abnormality of the liver, Splenomega... ORPHA:646
Hennekam Syndrome
Arteriovenous malformation, Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Splenomega... ORPHA:2136
Congenital Disorder Of Glycosylation, Type Iiw
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Tetralog... OMIM:619525
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb amyotrophy, Respiratory failure, Abnormal morphology of musculature of pharynx ORPHA:280210
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Nonimmune hydrops fetalis OMIM:618265
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Ductus venosus agenesis, Right aortic arch, Situs inversus... OMIM:620642
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left vent... OMIM:620646
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t... OMIM:620570
Scedosporiosis
Respiratory failure, Endocarditis, Pericarditis ORPHA:449280
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancreatic ins... ORPHA:456312
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic ca... OMIM:252010
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficiency ORPHA:723
Schneckenbecken Dysplasia
Polyhydramnios, Stillbirth, Nonimmune hydrops fetalis OMIM:269250
Meacham Syndrome
Abnormal lung lobation, Tetralogy of Fallot, Conotruncal defect, Congenital diaphragmatic hernia,... ORPHA:3097
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus ORPHA:1455
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Respiratory failure, Death in childhood OMIM:618252
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Hypoplastic aortic arch, Right aortic arch, Congenital... OMIM:619702
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial s... ORPHA:980
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Cryptorchidism, Decreased fetal movement, Multiple joint contrac... OMIM:265000
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, Th... ORPHA:449400
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Cardiomegaly, Respiratory failure, Cardiomyopathy ORPHA:158687
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in childhood, Respiratory failure, Torticollis OMIM:617186
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Mitral regurgitation, Hepatic steatosis, Premature arteriosclerosis, Calcif... ORPHA:391665
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice OMIM:613470
Fetal Akinesia Deformation Sequence 1
Generalized amyotrophy, Congenital contracture, Decreased muscle mass, Camptodactyly of finger, S... OMIM:208150
Primary Hepatic Neuroendocrine Carcinoma
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Ascites, Palp... ORPHA:100085
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Hepatosplenomegaly, Abnormality of the liver, High-outp... ORPHA:231222
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Left superior vena cava draining to coronary sinus, Atrial septal defe... OMIM:306955
Glycine Encephalopathy With Normal Serum Glycine
Elbow flexion contracture, Hip contracture, Flexion contracture, Arthrogryposis multiplex congeni... OMIM:617301
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Poliomyelitis
Hypoplasia of the musculature, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb mu... ORPHA:2912
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Limb hypertonia, Stillbirth, Hepatomegaly, Fac... OMIM:259720
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Respiratory failure ORPHA:83313
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta, Aortic tortuosity, Ascending a... OMIM:614823
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Respiratory failure ORPHA:70578
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Respiratory insufficiency, Hypertrophic cardiomyopathy, Cardiomegaly,... ORPHA:365
Keutel Syndrome
Pulmonary artery stenosis, Recurrent respiratory infections, Recurrent sinusitis ORPHA:85202
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Muscle hemorrhage, Venou... ORPHA:903
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Splenomegaly, Stroke, Cardiomegaly, Hepatomegaly, Jaundice, H... OMIM:603903
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure OMIM:618233
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Transient ischemic attack, Coarctation of aorta, Double outlet right ventric... ORPHA:1330
Acute Lung Injury
Acute pancreatitis, Respiratory failure ORPHA:178320
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Decreas... OMIM:614886
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... OMIM:611812
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Tetralogy of Fallot, Unil... OMIM:192430
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Peritonitis, Abnormal myocardium morphology, Respiratory failure ORPHA:679
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Aortic dissection, Abnormal venous morphology, Congestive heart failure, Dec... ORPHA:1900
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati... ORPHA:400
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Lower limb muscle weakness, Venous malformation,... ORPHA:90307
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Hepatitis, Hypersplenism, Splenomegaly, Hepatomegaly, Hydrops fetalis, Hepatocellular... ORPHA:3261
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Pulmonary artery hypoplasia, ... ORPHA:2326
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Wrist flexion contracture, Flexion contracture of finger, Camptodactyly, Macrogl... ORPHA:254528
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Patent ductus arteriosus, Varicose veins ORPHA:33001
Acute Interstitial Pneumonia
Pericardial effusion, Respiratory failure ORPHA:79126
Mycophenolate Mofetil Embryopathy
Coarctation of aorta, Hydrops fetalis, Congenital diaphragmatic hernia, Ventricular septal defect ORPHA:268249
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Ovarian neoplasm, Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis ORPHA:228116
Fraser Syndrome 3
Ascites, Oligohydramnios, Nonimmune hydrops fetalis, Sonographic non-visualized fetal bladder, St... OMIM:617667
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Seckel Syndrome 9
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Recurrent respiratory infections OMIM:616777
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Diaphragmatic eventration, Aorti... OMIM:620025
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Tetralogy of Fallot, Coarctation of aorta, Patent ductus arteriosus, Absent pulmonary artery OMIM:600460
Holt-Oram Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return ORPHA:392