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:
HFH-11B,  Fkh16,  Trident,  Mpm2,  Foxm1b,  WIN

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
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Respiratory failure, Arthrogryposis multiplex congenita, Respiratory insuf... OMIM:208081
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Neonata... OMIM:611369
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Foot dorsiflexor weakness, Facial hypotonia, Hip flexor w... ORPHA:266
Spinal Muscular Atrophy, Type I
Atrial septal defect, Proximal muscle weakness in lower limbs, Respiratory failure, Proximal amyo... OMIM:253300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Proximal muscle weakness in lower limbs, Scapular winging, Respiratory insufficiency OMIM:617232
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Flexion contracture, Multiple joint contractures, Skeletal muscle atrophy,... OMIM:614915
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Flexion contracture, Respiratory failure, Muscular dystrophy, Respiratory insufficiency, Apnea OMIM:613869
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia OMIM:265150
Nemaline Myopathy 8
Nemaline bodies, Flexion contracture, Respiratory failure, Facial palsy, Death in infancy, Myofib... OMIM:615348
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hydrops fetalis, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyop... OMIM:619433
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Congenital muscular dystrophy, Generalized muscle hypertrophy, Respi... OMIM:604801
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Hydrops fetalis, Coarctation... ORPHA:101028
Glycogen Storage Disease Iv
Hepatic failure, Portal hypertension, Hepatosplenomegaly, Skeletal muscle atrophy, Hydrops fetali... OMIM:232500
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency, Spi... OMIM:616081
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency, Abnormal cardiac septum morphology ORPHA:3188
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Increased variabilit... OMIM:300717
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia OMIM:178370
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... ORPHA:90308
Myopathy, Myofibrillar, 5
Respiratory insufficiency, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, Mu... OMIM:609524
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, Myofibrill... OMIM:603689
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus ORPHA:1208
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Increased variability in muscle fiber diameter, Respiratory failure, Death in ch... OMIM:619334
Nuchal Bleb, Familial
Hydrops fetalis, Fetal cystic hygroma, Stillbirth OMIM:257350
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation, Abnormality of the liver ORPHA:132
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Splenomegaly, Hepatomegaly, Cardiomyopathy, Abnor... OMIM:608540
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Polyhydramnios, Preeclamps... ORPHA:163596
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pleural... ORPHA:2414
Hemochromatosis, Neonatal
Hepatic failure, Cholestasis, Oligohydramnios, Nonimmune hydrops fetalis, Hepatocellular necrosis... OMIM:231100
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Lower limb muscle weakness, Respiratory failu... ORPHA:90117
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Diffuse Neonatal Hemangiomatosis
Patent ductus arteriosus, Hydrops fetalis, Hepatomegaly, Polyhydramnios, Ascites, Premature birth ORPHA:2123
Dysplastic Cortical Hyperostosis
Hydrops fetalis, Polyhydramnios, Splenomegaly, Hepatomegaly ORPHA:2204
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Muscle fiber necrosis, Increased variability in muscle fiber diam... OMIM:614399
Fetal Parvovirus Syndrome
Hydrops fetalis, Hypertrophic cardiomyopathy, Increased nuchal translucency, Ascites ORPHA:295
Fetal Gaucher Disease
Flexion contracture, Hydrops fetalis, Splenomegaly, Hepatomegaly, Decreased fetal movement, Fetal... ORPHA:85212
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Ventricular septal defect, Truncus arteriosus, Neonatal death, Respiratory i... OMIM:228940
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Heart Defects-Limb Shortening Syndrome
Abnormality of the pulmonary artery ORPHA:1354
Atrioventricular Septal Defect, Susceptibility To, 2
Right aortic arch with mirror image branching, Pulmonary artery atresia OMIM:606217
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery ORPHA:1065
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory failure, Hypertrophic cardiomyopathy, Respiratory insufficien... OMIM:614299
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Cardiomyopathy, Ventricular septal defect, Premature birth... ORPHA:1909
Alpha-Thalassemia
Cholelithiasis, Hydrops fetalis, Splenomegaly, Jaundice, Hypersplenism ORPHA:846
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of the pulmonary artery, Congenital ... ORPHA:1166
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Flexion contracture, Portal hypertension, Hepatosplenome... ORPHA:367
Myopathy, X-Linked, With Postural Muscle Atrophy
Flexion contracture, Scapular winging, Hypertrophic cardiomyopathy, Respiratory insufficiency, Ri... OMIM:300696
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibroelastosis, Cardiomyocyte... OMIM:612158
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly, Pre... OMIM:269920
Sialidosis Type 2
Flexion contracture, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomegaly, Pedal ... ORPHA:87876
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure, Congenital contracture OMIM:225753
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Pancreatic cysts, Atrial... OMIM:267010
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy, Abnormal left ventricle morphology OMIM:615373
Neuraminidase Deficiency
Cherry red spot of the macula, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomega... OMIM:256550
Postsynaptic Congenital Myasthenic Syndromes
Weakness of the intrinsic hand muscles, Restrictive ventilatory defect, Abnormality of the muscul... ORPHA:98913
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Respiratory failure, Limb muscle weakness OMIM:600561
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Cryptorchidism, Hydrops fetalis, Hypertrophic cardio... OMIM:618815
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Respiratory failure OMIM:616794
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Tachypnea, Cough, Respiratory distress, Cor pulmonale OMIM:263000
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:613124
Intermediate Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Respiratory failure, EMG: myopathi... ORPHA:171433
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency due ... OMIM:618291
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619386
Congenital Muscular Dystrophy With Intellectual Disability
Multiple joint contractures, Abnormality of the tongue muscle, Reduced muscle fiber alpha dystrog... ORPHA:370968
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Weakness of facial musculature OMIM:618637
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Respiratory insufficiency, Myopathy OMIM:616314
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Cholestasis, Pancreatic cysts, Atrial septal defect, Bile duct proliferation, ... OMIM:208540
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Cholestasis, Progressive Familial Intrahepatic, 8
Sclerosing cholangitis, Portal hypertension, Elevated circulating alanine aminotransferase concen... OMIM:619662
Congenital Bile Acid Synthesis Defect Type 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatosplenomegaly,... ORPHA:79302
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Lower limb muscle weakness, Pro... OMIM:613954
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Polyhydramnios, Oligohydramnios, ... ORPHA:3032
Waardenburg Syndrome Type 2
Abnormality of the pulmonary artery ORPHA:895
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Hydrops fetalis, Myocarditis, Hypotension, Decreased fetal movement... ORPHA:292
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618222
Minicore Myopathy With External Ophthalmoplegia
Minicore myopathy, Nemaline bodies, Skeletal muscle atrophy, Type 1 and type 2 muscle fiber minic... OMIM:255320
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Prolonged QT interval, Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Tricuspid Atresia
Persistent left superior vena cava, Pulmonary artery atresia, Coarctation of aorta, Transposition... ORPHA:1209
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Cholestasis, Congestive heart failure, Arrhythmia, Hydrop... OMIM:609015
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Respiratory failure, Respiratory insufficiency due to muscle weakness, A... OMIM:611890
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Flexion contracture, Patent foramen ovale, Skeletal muscle atrophy, Increased variability in musc... OMIM:616867
Asbestos Intoxication
Nonproductive cough, Restrictive ventilatory defect, Myocardial fibrosis, Hypoxemia, Late inspira... ORPHA:2302
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Mulibrey Nanism
Pericardial constriction, Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Cardi... OMIM:253250
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Increased variability in muscle fiber diameter, Respiratory insufficiency, Type 1 m... OMIM:618654
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Increased endomysial connective tissue, Increased variability in muscle fibe... ORPHA:75840
Hyperekplexia 4
Camptodactyly, Distal arthrogryposis, Flexion contracture, Respiratory failure OMIM:618011
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Respiratory failure, Respiratory insufficiency, Stillbirth OMIM:276950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating alanine aminotransferase concentration, Skeletal muscle atrophy, Elevated ci... OMIM:245400
Hepatic Veno-Occlusive Disease
Respiratory failure, Elevated hepatic transaminase, Hepatomegaly, Jaundice ORPHA:890
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Varicose veins, Lymphedema, Edema,... OMIM:617300
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:608647
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Single umbilical artery, Polyhydramnios, Ve... ORPHA:3405
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Left superior vena cava draining directly to the left atrium, Pulmonary artery atresia OMIM:613759
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Abnormality of ... OMIM:266200
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Stillbirth, Peric... OMIM:618773
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Muscular dystrophy, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Muscle fiber hypertrophy, Nemaline bodies, Flexion contra... ORPHA:98905
Achondrogenesis, Type Ib
Hydrops fetalis, Breech presentation, Polyhydramnios, Edema, Stillbirth OMIM:600972
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Death in infancy, Splenomegaly, Hepatomegaly ORPHA:139406
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Generalized amyotrophy, Respiratory failure, Dy... ORPHA:352447
Hydrops Fetalis
Arrhythmia, Nonimmune hydrops fetalis, Pleural effusion, Capillary leak, Abnormal heart morpholog... ORPHA:1041
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Neonatal death, Cardiomyopathy OMIM:619003
Nemaline Myopathy 5
Nemaline bodies, Proximal amyotrophy, Respiratory insufficiency, Type 1 muscle fiber predominance... OMIM:605355
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Right aortic arch, Pulmonary artery atresia, Double aortic arch, Aortopulmon... OMIM:618780
Chondrodysplasia, Blomstrand Type
Hydrops fetalis, Polyhydramnios, Premature birth, Stillbirth OMIM:215045
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Dyspnea, Limb muscle weakness, Cardiomyopathy, Respiratory insufficiency OMIM:606842
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Respiratory failure requir... ORPHA:555874
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure, Hip contracture, Knee flexion contracture OMIM:313420
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Flexion contracture, Muscular dystrophy, Respiratory failure, Respiratory... OMIM:310200
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Lymphatic Malformation 1
Prominent superficial veins, Nonimmune hydrops fetalis, Hypoplasia of lymphatic vessels, Predomin... OMIM:153100
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta OMIM:601612
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis, Prolonged neonatal jaundice, Splenomegaly OMIM:224120
Pulmonary Hypertension, Primary, 1
Arterial intimal fibrosis, Pulmonary aterial intimal fibrosis, Pulmonary artery vasoconstriction,... OMIM:178600
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate OMIM:607361
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Minicore myopathy, Congenital muscular dystrophy, Proxim... ORPHA:598
Myopathy, Myofibrillar, 6
Generalized amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop... OMIM:612954
Mitochondrial Complex I Deficiency, Nuclear Type 22
Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618243
Diabetic Embryopathy
Tetralogy of Fallot, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of the abdominal wal... ORPHA:1926
Boomerang Dysplasia
Cryptorchidism, Hydrops fetalis, Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:1263
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Hypertrophic cardiomyopathy, EMG: myopathic a... OMIM:255160
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Flexion contracture, Hypertrophic cardiomyopathy, Respirator... ORPHA:1194
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hepatic steatosis, Hypertrophic cardiomyopathy, Respiratory failure, Central sleep apnea, Decreas... ORPHA:70472
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Cherry red spot of the macula, Abnormal heart valve morphology, Congestiv... OMIM:230500
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial fibrillation, Cardiomegaly, Holosystolic murmur, Arrhythmia, Com... ORPHA:1677
Fadd-Related Immunodeficiency
Pulmonary artery atresia ORPHA:306550
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Tachypnea, Respiratory failure, Limb muscle weakness, Diaphragmatic eventration, Inspiratory stri... OMIM:604320
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:617049
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Thoracic aortic aneurysm, Patent ductus arteriosus, Descendin... OMIM:132900
Lung Cancer
Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma OMIM:211980
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failure... ORPHA:2590
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Ele... ORPHA:79301
Myopathy, Centronuclear, X-Linked
Respiratory failure requiring assisted ventilation, Flexion contracture, Respiratory failure, Dec... OMIM:310400
Free Sialic Acid Storage Disease
Hydrops fetalis, Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature... ORPHA:834
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis, Prolonged neonatal jaundice, Splenomegaly ORPHA:766
Combined Oxidative Phosphorylation Deficiency 42
Nonimmune hydrops fetalis, Decreased liver function, Cardiomyopathy, Neonatal death, Premature birth OMIM:618839
Lymphatic Malformation 6
Chylothorax, Intestinal lymphangiectasia, Atrial septal defect, Hydrocele testis, Nonimmune hydro... OMIM:616843
Combined Oxidative Phosphorylation Deficiency 40
Nonimmune hydrops fetalis, Hypertrophic cardiomyopathy, Decreased liver function, Neonatal death,... OMIM:618835
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Congenital Heart Defects, Multiple Types, 6
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta, Double outlet... OMIM:613854
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma OMIM:603641
Supravalvular Aortic Stenosis
Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Myopathy, Tubular Aggregate, 1
Weakness of the intrinsic hand muscles, Type 2 muscle fiber atrophy, Flexion contracture, Increas... OMIM:160565
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Skeletal muscle atrophy, Respiratory failure, Ventricular septal defect, ... OMIM:607598
Dubin-Johnson Syndrome
Biliary tract abnormality, Jaundice OMIM:237500
Hardikar Syndrome
Premature rupture of membranes, Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferatio... OMIM:301068
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Nonimmune hydrops fetalis ORPHA:477774
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Congenital Rubella Syndrome
Abnormality of the pulmonary artery, Patent ductus arteriosus ORPHA:290
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Chronic rhinit... OMIM:615451
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Foot dorsiflexor weakness, Shoulder girdle muscle atrophy, Respiratory failu... OMIM:606071
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Arteria lusoria, Hydrops fetalis, Tricuspid valve prolap... OMIM:212093
Caroli Syndrome
Hepatic failure, Portal hypertension, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... ORPHA:480520
3-Methylglutaconic Aciduria, Type Viii
Apnea, Death in infancy, Respiratory failure OMIM:617248
Primary Ciliary Dyskinesia
Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusitis, Situs inversus tota... ORPHA:244
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatosplenomegaly, Crackles, Respiratory failure, Cough, Hepatom... ORPHA:99931
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Ventricular Septal Defect 3
Patent ductus arteriosus, Pulmonary artery stenosis OMIM:614432
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory failure requiring assisted ventilation, Elevated circulating alanine aminotransferase... ORPHA:308552
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
Surfactant Metabolism Dysfunction, Pulmonary, 1
Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary arterial hypertension, Neonata... OMIM:265120
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatic steatosis, Respiratory failure, Hepatomegaly, Myopathy, Cirrhosis ORPHA:363400
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Plantar telangiectasia, Pleural effusion, Predominantly lower limb lymphedema, P... ORPHA:69735
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Paroxysmal dyspnea, Hypertrophic cardiomyopathy, Stridor, Right ventricular ... ORPHA:444013
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis OMIM:617992
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Abnormal lymphatic vessel m... ORPHA:568051
Alg8-Cdg
Hydrops fetalis, Macroglossia, Edema, Elevated hepatic transaminase, Ascites, Premature birth, Ca... ORPHA:79325
Galactosialidosis
Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosplenomegaly, Conjunctival telang... OMIM:256540
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the liver, Hydrops fetalis, Muscular dystrophy, Cardiomyopathy, Elevated hepatic t... ORPHA:88618
Mucopolysaccharidosis Type 7
Hydrops fetalis, Splenomegaly, Lymphedema, Hepatitis, Arteriovenous malformation, Ascites ORPHA:584
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Aorto-ventricular tunnel, Abnormal coronary artery morphology, Aortic... ORPHA:3400
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Arteriovenous fistula, High-output congestive heart failure, Congestive heart failur... ORPHA:137667
Alg1-Cdg
Abnormal heart morphology, Respiratory failure, Cardiomyopathy, Decreased liver function ORPHA:79327
Triosephosphate Isomerase Deficiency
Cholelithiasis, Skeletal muscle atrophy, Cholecystitis, Death in adolescence, Respiratory failure... OMIM:615512
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Scimitar Syndrome
Pulmonary artery hypoplasia, Double outlet right ventricle, Anomalous origin of left coronary art... ORPHA:185
Cholestasis-Lymphedema Syndrome
Portal hypertension, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Lymphedem... ORPHA:1414
Central Hypoventilation Syndrome, Congenital, 3
Apnea, Respiratory failure, Central hypoventilation OMIM:619483
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Avian Influenza
Nonproductive cough, Rhabdomyolysis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough,... ORPHA:454836
Campomelia, Cumming Type
Abnormality of the pancreas, Pancreatic cysts, Hydrops fetalis, Hepatomegaly, Lymphedema, Oligohy... ORPHA:1318
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Hydrops fetalis, Endocardial fibroelastosis OMIM:276822
Proximal Spinal Muscular Atrophy
Hypoventilation, Restrictive ventilatory defect, Flexion contracture, Multiple joint contractures... ORPHA:70
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita OMIM:615330
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Respiratory failure OMIM:600333
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular dilatation, Abnormal atrioventricular valve morphology,... ORPHA:563
Mosaic Trisomy 9
Abnormal heart valve morphology, Patent ductus arteriosus, Endocardial fibroelastosis, Atrial sep... ORPHA:99776
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Flexion contracture, Hydrops fetalis, Hypertrophic cardiomyopathy, Pleural effusion, Single umbil... OMIM:616897
Farber Disease
Cherry red spot of the macula, Hepatic failure, Flexion contracture, Hepatosplenomegaly, Skeletal... ORPHA:333
Severe Congenital Nemaline Myopathy
Nemaline bodies, Flexion contracture, Skeletal muscle atrophy, Abnormality of the diaphragm, Resp... ORPHA:171430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Gm1 Gangliosidosis
Cherry red spot of the macula, Hepatosplenomegaly, Patent ductus arteriosus, Congestive heart fai... ORPHA:354
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Acute Interstitial Pneumonia
Nonproductive cough, Hypoxemia, Crackles, Tachypnea, Respiratory failure, Pleural effusion, Bronc... ORPHA:79126
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Hydrops fetalis, Fetal akinesia sequence, Ventricular septal defect, Torticolli... OMIM:617022
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Dextrotransposition of the great arteries, Interrupted i... OMIM:613751
Multiple Acyl-Coa Dehydrogenase Deficiency
Acute pancreatitis, Rhabdomyolysis, Restrictive ventilatory defect, Skeletal muscle atrophy, Resp... ORPHA:26791
Surfactant Metabolism Dysfunction, Pulmonary, 3
Paraseptal emphysema, Nonspecific interstitial pneumonia, Hypoxemia, Tachypnea, Respiratory failu... OMIM:610921
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Cholestasis, Lower limb muscle weakness, Respiratory failure, ... ORPHA:746
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Portal hypertension, Hepatosplenomegaly, Periportal fibrosis, Cholestasis, Cholan... ORPHA:731
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure, Central sleep apnea ORPHA:168486
Tracheal Agenesis
Respiratory insufficiency, Abnormal cardiac septum morphology ORPHA:3346
Meckel Syndrome, Type 6
Absent gallbladder, Bile duct proliferation, Cystic liver disease, Hepatic fibrosis, Hepatic cysts OMIM:612284
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Cholestasis, Interface hepatitis, Gra... ORPHA:562639
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Patent foramen ovale, Cholestasis, Cholangitis, Atrial septal defect, Bile duc... OMIM:613610
Autosomal Erythropoietic Protoporphyria
Cholelithiasis, Cirrhosis, Edema, Decreased liver function ORPHA:79278
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure, Splenomegaly, Hepatomegaly OMIM:609981
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Dyspnea, Respiratory di... ORPHA:178320
Gaucher Disease, Perinatal Lethal
Hepatic failure, Hepatosplenomegaly, Nonimmune hydrops fetalis, Splenomegaly, Hepatomegaly, Decre... OMIM:608013
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Pancreatitis, Jaundice, Elevated hepatic transaminase, Cholestatic liver disease,... ORPHA:65682
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Lipid... OMIM:608836
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Cough, Pleural effusio... ORPHA:36238
Trisomy 1Q
Patent ductus arteriosus, Cryptorchidism, Hydrops fetalis, Congenital diaphragmatic hernia, Polyh... ORPHA:261344
Hereditary Elliptocytosis
Cholelithiasis, Hydrops fetalis, Splenomegaly, Jaundice, Prolonged neonatal jaundice ORPHA:288
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Nonspecific interstitial pneumonia, Hypoxemia, Interstitial pneumonitis, Tac... OMIM:610913
Joubert Syndrome 6
Bile duct proliferation, Hepatic fibrosis OMIM:610688
Meckel Syndrome, Type 5
Bile duct proliferation OMIM:611561
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Hypoplastic Left Heart Syndrome 1
Coarctation of aorta OMIM:241550
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Elevated hepatic tr... OMIM:600803
Ciliary Dyskinesia, Primary, 30
Respiratory insufficiency due to defective ciliary clearance, Asthma, Dextrocardia, Situs inversu... OMIM:616037
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Pleural effusion, Palpebral edema, Pulmonary lymphangiect... OMIM:265300
Achondrogenesis, Type Ii
Hydrops fetalis, Polyhydramnios, Edema, Stillbirth OMIM:200610
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cardiac arrest, Cholestasis, Bile duct proliferation, Left-to-right shunt, Dex... OMIM:619534
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Patent ductus arteriosus, Coarct... OMIM:610338
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Abnormal pattern of respiration, Hepatocellular n... OMIM:256000
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure, Hepatomegaly OMIM:610678
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Meckel Syndrome, Type 4
Atrial septal defect, Bile duct proliferation, Ventricular septal defect OMIM:611134
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Tetralogy of Fallot, Left ventricular hypertrophy, Pulmonary artery atresia OMIM:108900
Duchenne Muscular Dystrophy
Flexion contracture, Skeletal muscle atrophy, Cardiomyopathy, Respiratory insufficiency, Calf mus... ORPHA:98896
Trisomy 13
Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis, Cryptorchidism, Ventricular sept... ORPHA:3378
Dextrocardia
Abnormal lung lobation, Abnormality of the pulmonary artery, Congenital malformation of the great... ORPHA:1666
Peroxisome Biogenesis Disorder 4A (Zellweger)
Death in infancy, Respiratory failure, Hepatomegaly OMIM:614862
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Hypoplastic spleen, Endocardial fibroelastosis, Nonimmune hydrops fetal... OMIM:619313
Combined Oxidative Phosphorylation Deficiency 37
Bile duct proliferation, Hypertrophic cardiomyopathy, Decreased liver function, Elevated hepatic ... OMIM:618329
Thoraco-Abdominal Enteric Duplication
Abnormal tricuspid valve morphology, Hepatomegaly, Dextrocardia, Respiratory insufficiency, Campt... ORPHA:1759
Congenital Disorder Of Glycosylation, Type Ia
Hepatic steatosis, Flexion contracture, Nonimmune hydrops fetalis, Hepatomegaly, Cardiomyopathy, ... OMIM:212065
Congenital Heart Defects, Multiple Types, 3
Tetralogy of Fallot, Atrial septal defect, Right bundle branch block, Abnormal heart morphology, ... OMIM:614954
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta OMIM:615779
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Microvesicular hepatic steatosis, Hepatic failure, Bile duct proliferation, Hepatomegaly, Elevate... OMIM:203700
Heterotaxy, Visceral, 8, Autosomal
Pulmonary artery atresia, Double outlet right ventricle OMIM:617205
Truncus Arteriosus
Truncus arteriosus, Tetralogy of Fallot, Anomalous origin of the left common carotid artery from ... ORPHA:3384
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Rhabdomyolysis, Patent foramen ovale, Respiratory failure, Hepatomegaly, ... OMIM:610505
D-Bifunctional Protein Deficiency
Hepatic steatosis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Polyhydramni... OMIM:261515
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Pancreatitis, Abnormal blood gas level ORPHA:70578
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Tachypnea, Atelectasis, Nasal flaring ORPHA:70587
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Flexion contracture, Hydrops fetalis, Splenomegaly, Hepatomegaly... OMIM:253220
Sick Sinus Syndrome 2
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse OMIM:163800
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas ORPHA:438274
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Myotonic Dystrophy 1
Cholelithiasis, Atrial flutter, First degree atrioventricular block, Decreased fetal movement, Te... OMIM:160900
Kaposi Sarcoma
Venous insufficiency, Lymphedema, Abnormality of the liver, Abnormality of the spleen ORPHA:33276
Meckel Syndrome, Type 2
Bile duct proliferation OMIM:603194
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Palpebral edema, Predominantly lower limb lymphedema, Palmar telangiec... OMIM:607823
Alg9-Cdg
Right ventricular dilatation, Periportal fibrosis, Atrial septal defect, Hydrops fetalis, Hepatic... ORPHA:79328
Ciliary Dyskinesia, Primary, 18
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Ciliary dys... OMIM:614874
Renal-Hepatic-Pancreatic Dysplasia 2
Cholestasis, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversus totalis, Pulmonic stenosis... OMIM:615415
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis, Respiratory failure, Respiratory paralysis, Epistaxis ORPHA:449285
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Type 2 muscle fiber atrophy, Respiratory insufficiency, Respiratory failure, Pulmonary arterial h... OMIM:613845
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hydrops fetalis, Hepatic fibrosis, Ascites OMIM:614091
Gaucher Disease Type 3
Abnormal myocardium morphology, Abnormal heart valve morphology, Hydrops fetalis, Splenomegaly, H... ORPHA:77261
Hyperbiliverdinemia
Cholelithiasis, Decreased liver function, Cholestasis OMIM:614156
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Skeletal muscle atrophy, Proximal muscle weakness in lower limbs, Biliary atresia, Calf... ORPHA:565899
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Respiratory failure, Central hypoventilation OMIM:618233
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Patent ductus arteriosus, Transposition of the great arteries, Coarctation of aorta, Truncus arte... OMIM:612474
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Weak pulse, Ascites, Ventricular hypertrophy... ORPHA:51608
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery ORPHA:1131
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Flexion contracture, Congenital muscular dystrophy, Aspiration, Absent... ORPHA:258
Protoporphyria, Erythropoietic, X-Linked
Cholelithiasis, Elevated hepatic transaminase OMIM:300752
Meckel Syndrome, Type 1
Accessory spleen, Patent ductus arteriosus, Bile duct proliferation, Cryptorchidism, Splenomegaly... OMIM:249000
Amyotrophic Lateral Sclerosis
Abnormal respiratory system physiology, Dyspnea, Respiratory failure, Skeletal muscle atrophy ORPHA:803
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Edema OMIM:177000
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Aortic root aneurysm, Coronary artery atherosclerosis, Aortic atherosclerotic lesion, ... ORPHA:363618
Milroy Disease
Hydrocele testis, Abnormal venous morphology, Predominantly lower limb lymphedema, Lymphedema, Pe... ORPHA:79452
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory insufficiency, Respiratory failure OMIM:273730
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Hydrops fetalis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly OMIM:613673
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, Abnormal aortic morphology, Truncus arteriosus ORPHA:2516
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Gm1 Gangliosidosis Type 1
Cherry red spot of the macula, Abnormal placenta morphology, Hepatosplenomegaly, Hydrops fetalis,... ORPHA:79255
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Portal hypertension, Gastrointestinal hemorrhage, Mucosal telang... ORPHA:774
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Ventricul... OMIM:126320
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Intercostal muscle weakness, Flexion contracture, Type 1 muscle fiber atrophy, Hypopla... ORPHA:2020
Nephronophthisis 2
Respiratory insufficiency, Respiratory failure, Situs inversus totalis OMIM:602088
Spinocerebellar Ataxia Type 1
Respiratory failure, Abnormality of masticatory muscle, Skeletal muscle atrophy ORPHA:98755
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Cholelithiasis, Camptodactyly of finger, Giant cell hepatitis, Jaundice OMIM:214980
Pearson Syndrome
Exocrine pancreatic insufficiency, Hypoplastic spleen, Hepatic steatosis, Hepatic failure, Abnorm... ORPHA:699
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Bile duct proliferation, Polycystic liver disease, Jau... OMIM:208500
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Venous insufficiency, Arteriovenous malformation, Edema, Intracra... ORPHA:624
Greenberg Dysplasia
Hepatosplenomegaly, Toxemia of pregnancy, Hydrops fetalis, Nonimmune hydrops fetalis, Pancreatic ... OMIM:215140
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis, Hydrocele testis OMIM:616738
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Jaund... ORPHA:64743
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Tracheomalacia, Tachypnea, Dyspnea, Atelectasis, Upper ... ORPHA:60032
Metatropic Dysplasia
Respiratory insufficiency, Respiratory failure, Flexion contracture, Arthrogryposis multiplex con... OMIM:156530
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice OMIM:224100
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Microvesicular hepatic steatosis, Hepatosplenomegaly, Respiratory failure, Tachypnea, Respiratory... OMIM:618278
Lethal Congenital Contracture Syndrome 5
Flexion contracture, Respiratory insufficiency, Death in infancy, Centrally nucleated skeletal mu... OMIM:615368
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Portal inflammati... OMIM:603471
Pagod Syndrome
Pulmonary artery hypoplasia, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery... ORPHA:991
Hadziselimovic Syndrome
Tetralogy of Fallot, Pulmonary artery atresia OMIM:612946
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating alanine aminotransferase concentration, Flexion contracture, Facial hypotoni... ORPHA:365
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Edema of the dorsum of feet, P... ORPHA:275766
Osteogenesis Imperfecta, Type Ii
Premature birth, Nonimmune hydrops fetalis, Pulmonary insufficiency, Congestive heart failure OMIM:166210
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Respiratory failure, Cardiomyopathy, Elevated hepatic transaminase, Pneumothorax ORPHA:445038
Rajab Interstitial Lung Disease With Brain Calcifications 1
Anasarca, Hepatic steatosis, Portal hypertension, Cholestasis, Bile duct proliferation, Decreased... OMIM:613658
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Ventricular septal defect, Respiratory distress OMIM:617895
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Oxygen desaturation on exertion, ... ORPHA:60025
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Nonimmune hydrops fetalis, Premature birth OMIM:618838
Aortic Aneurysm, Familial Thoracic 9
Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm OMIM:616166
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, Pulmonary artery at... OMIM:618316
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ... OMIM:618775
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Tetralogy of Fallot, Patent ductus arteriosus, Bilateral lung agen... OMIM:601186
Gardner Syndrome
Hepatoblastoma, Adrenocortical carcinoma, Colon cancer, Osteoma, Lipoma, Pilomatrixoma, Adenomato... ORPHA:79665
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatic steatosis, Cholestasis, Cholesterol gallstones, Accelerated atherosclerosis, Coronary art... ORPHA:209902
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Edema, Prominent superficial veins ORPHA:75508
Mgat2-Cdg
Arrhythmia, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, Hypoplastic nip... ORPHA:79329
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal defect, Resp... OMIM:618804
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Gallbladder Disease 4
Cholelithiasis OMIM:611465
Conotruncal Heart Malformations
Double outlet right ventricle, Transposition of the great arteries, Coarctation of aorta, Truncus... OMIM:217095
Achondrogenesis, Type Ia
Hydrops fetalis, Polyhydramnios, Stillbirth OMIM:200600
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Respiratory failure, Flexion contracture, Distal amyotrophy OMIM:616505
Telangiectasia, Hereditary Hemorrhagic, Type 1
Gastrointestinal hemorrhage, Nail bed telangiectasia, Cerebral arteriovenous malformation, Hepati... OMIM:187300
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Coarctation of aorta OMIM:614823
Primary Sclerosing Cholangitis
Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Palmar telangiectasia... ORPHA:171
Gaucher Disease
Abnormal myocardium morphology, Cherry red spot of the macula, Abnormal heart valve morphology, A... ORPHA:355
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Hydrops fetalis, Pulmonary embolism, Jaundice, Pulmonary arterial hyperte... ORPHA:79282
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Pancreatic fibrosis, Tricuspid ... OMIM:263520
Cholestasis, Benign Recurrent Intrahepatic, 2
Cholelithiasis, Intrahepatic cholestasis, Hepatomegaly, Jaundice OMIM:605479
Fibrochondrogenesis 1
Patent foramen ovale, Hydrops fetalis, Camptodactyly, Stillbirth, Joint contracture of the hand OMIM:228520
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Coronary artery atherosclerosis, Aortic atherosclerotic lesion, Hyperte... ORPHA:391665
Visceral Steatosis, Congenital
Neonatal death, Hepatic steatosis, Myocardial steatosis, Jaundice OMIM:228100
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2759
Pearson Marrow-Pancreas Syndrome
Exocrine pancreatic insufficiency, Hepatic failure, Hydrops fetalis, Macronodular cirrhosis, Hepa... OMIM:557000
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Hepatomegaly, Neona... OMIM:619167
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Congenital diaphragmatic hernia, Coarc... ORPHA:1120
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Achilles tendon contracture, Exocrine pancreatic insufficiency, Contractures involving the joints... ORPHA:456312
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Pneumothorax, Abnormal pulmonary artery morphology, Abnormal he... ORPHA:2257
Scleromyxedema
Abnormal skeletal muscle morphology, Myopathy, Abnormal coronary artery morphology, Abnormal pulm... ORPHA:167635
Combined Immunodeficiency-Enteropathy Spectrum
Polyhydramnios, Abnormality of the ductus choledochus, Peritoneal abscess, Hepatitis, Ventricular... ORPHA:436252
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Respiratory failure, Hypertrophic cardiomyopathy, Decreased liver functio... ORPHA:70474
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Tachypnea, Pulmonary arterial hypertension, Spontaneous neonatal pneumo... ORPHA:217563
Niemann-Pick Disease Type C
Hepatic failure, Abnormality of the liver, Hepatosplenomegaly, Foam cells, Hydrops fetalis, Splen... ORPHA:646
Right Atrial Isomerism
Tetralogy of Fallot, Total anomalous pulmonary venous return, Pulmonary artery atresia, Transposi... OMIM:208530
Ketamine-Induced Biliary Dilatation
Abnormal biliary tract morphology ORPHA:293807
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Flexion contracture, Atrial septal defect, Hydrops fetalis, Hepatomegaly, Elevated hepatic iron c... OMIM:300868
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Coarctation of aorta, Transposition of the great arteries ORPHA:261243
Noonan Syndrome With Multiple Lentigines
Vascular dilatation, Scapular winging, Abnormality of the pulmonary artery, Aplasia/Hypoplasia of... ORPHA:500
Phaver Syndrome
Hypoplastic aortic arch, Camptodactyly of finger, Pulmonary artery atresia, Coarctation of aorta ORPHA:2876
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Patent ductus arteriosus, Atrial septal defect, Pulmonar... ORPHA:210122
Beta-Thalassemia
Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Hepatitis ORPHA:848
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Atherosclerosis, C... ORPHA:231160
Dubin-Johnson Syndrome
Biliary tract abnormality, Abnormality of the liver, Hepatomegaly, Jaundice ORPHA:234
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
Hepatocellular Carcinoma
Anasarca, Abnormality of the liver, Portal hypertension, Ascites, Hypotension, Hepatomegaly, Jaun... ORPHA:88673
Cardiac Diverticulum
Diastasis recti, Tricuspid atresia, Premature ventricular contraction, Pulmonary artery hypoplasi... ORPHA:1686
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Splenomegaly, Hepatomegaly ORPHA:3226
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Skeletal muscle atrophy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, ... OMIM:252010
14Q24.1Q24.3 Microdeletion Syndrome
Pulmonary artery atresia, Truncus arteriosus ORPHA:401935
Tempi Syndrome
Abnormality of the pulmonary vasculature, Transudative pleural effusion ORPHA:284227
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Cryptorchidism, Hydrops fetalis, Abnormal heart morphology, Single umbilical... ORPHA:1865
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Interrupted inferior vena c... OMIM:616749
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Elevated circulating alanine aminotransferase concentration, Hepatic steatos... OMIM:619525
Glycine Encephalopathy With Normal Serum Glycine
Flexion contracture, Respiratory failure, Hip contracture, Arthrogryposis multiplex congenita, Ap... OMIM:617301
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nail bed telangiectasia, Cerebral arteriovenous malformation, Hepatic arteriovenous malformation,... OMIM:600376
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb amyotrophy, Respiratory failure, Abnormal morphology of musculature of pharynx ORPHA:280210
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Aplasia of the right hemidiaphragm, Scimitar anoma... OMIM:608978
Meige Disease
Peripheral edema, Pleural effusion, Predominantly lower limb lymphedema, Varicose veins, Lymphede... ORPHA:90186
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure OMIM:615838
Hennekam Syndrome
Chylothorax, Hydrops fetalis, Splenomegaly, Pulmonary lymphangiectasia, Lymphedema, Arteriovenous... ORPHA:2136
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Respiratory failure OMIM:617186
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Patent foramen ovale, Atrial septal defect, Asthma, Respiratory failure, Pul... ORPHA:209905
Glycogen Storage Disease Vii
Cholelithiasis, Increased muscle glycogen content, Jaundice OMIM:232800
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus ORPHA:1455
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Respiratory failure, Splenomegaly, Hepatomegaly, Facial palsy, Stillbirth OMIM:259720
Niemann-Pick Disease, Type C2
Respiratory failure, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Respiratory insuffi... OMIM:607625
Fibrodysplasia Ossificans Progressiva
Respiratory insufficiency, Respiratory failure OMIM:135100
Malignant Atrophic Papulosis
Abnormal myocardium morphology, Abnormal pericardium morphology, Peritonitis, Respiratory failure... ORPHA:679
Congenital Bile Acid Synthesis Defect Type 4
Cholelithiasis, Hematochezia, Rhabdomyolysis, Giant cell hepatitis, Elevated hepatic transaminase... ORPHA:79095
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Mucoid extracellular matrix accumulation, Abdominal aortic aneurysm, Patent ductus arteriosus, Ao... ORPHA:91387
Biliary Malformation With Renal Tubular Insufficiency
Biliary hyperplasia, Jaundice OMIM:210550
Geleophysic Dysplasia 3
Pneumonia, Sleep apnea, Respiratory failure, Hepatomegaly, Dyspnea OMIM:617809
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Hepatic failure, Patent ductus arteriosus, Atrial septal defect, Decreased fetal ... OMIM:614886
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure, Tachypnea, Pleural effusion, Elevated hepatic transaminase ORPHA:542323
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Poliomyelitis
Respiratory failure requiring assisted ventilation, Abnormal skeletal muscle morphology, Skeletal... ORPHA:2912
Nocardiosis
Emphysema, Nonproductive cough, Abnormal heart valve morphology, Pneumonia, Peritonitis, Respirat... ORPHA:31204
Primary Hepatic Neuroendocrine Carcinoma
Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Neoplasm of the liver... ORPHA:100085
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Pigment gallstones OMIM:613470
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:745
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Coarctation of aorta, Pulmonary artery atresi... ORPHA:3426
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Aortic dissection OMIM:130090
Meacham Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Conotruncal defec... ORPHA:3097
Autoimmune Lymphoproliferative Syndrome
Premature ovarian insufficiency, Hydrops fetalis, Splenomegaly, Hepatomegaly, Vasculitis, Hepatit... ORPHA:3261
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, High-output congestive heart failur... ORPHA:231222
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Osteoma, Neoplasm of the ga... ORPHA:733
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Respiratory failure, Cardiomyopathy, Camptodactyly of toe ORPHA:158687
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Glycogen Storage Disease Xii
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Myopathy OMIM:611881
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Patent ductus arteriosus, Dextrotransposition of the great arterie... OMIM:619702
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:610773
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Pulmonic stenosis, Mitral stenosis, Ventric... ORPHA:1461
Listeriosis
Hepatic granulomatosis, Rhabdomyolysis, Pneumonia, Cholecystitis, Peritonitis, Respiratory failur... ORPHA:533
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Ovarian neoplasm, Arteriovenous malformation, Congestive heart failure ORPHA:137608
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Boutonneuse Fever
Respiratory failure, Elevated hepatic transaminase ORPHA:83313
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Muscular dystrophy OMIM:616538
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology ORPHA:3222
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Splenomegaly, Hepatomegaly, Pulmo... OMIM:612541
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Elbow flexion contracture, Muscle fiber atrophy, Congestive heart failure, Abnormal venous morpho... ORPHA:1900
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Hydrops fetalis, Polyhydramnios, Premature birth, Edema OMIM:602522
Cystic Echinococcosis
Abnormality of the testis size, Abnormality of the pancreas, Biliary tract obstruction, Abnormali... ORPHA:400
Parkes Weber Syndrome
Arteriovenous fistula, High-output congestive heart failure, Vascular tortuosity, Lower limb musc... ORPHA:90307
North American Indian Childhood Cirrhosis
Biliary cirrhosis, Prolonged neonatal jaundice, Portal hypertension OMIM:604901
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Flexion contracture, Diastasis recti, Respiratory failure, Macroglossia, Flexion contracture of f... ORPHA:254528
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Predominantly lower limb lymphedema, L... OMIM:153400
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Gaucher Disease Type 1
Abnormal myocardium morphology, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Pulmonary ... ORPHA:77259
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism ORPHA:743
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Hypoplasia of right ventricle, Ventricular septal defect, Inte... ORPHA:2255
Mycophenolate Mofetil Embryopathy
Hydrops fetalis, Coarctation of aorta, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:268249
Erythrocytosis, Familial, 8
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:222800
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Ventricular septal defect, Cardiomegaly, Facial telangiectasia, Decrease... OMIM:602782
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory failure, Respiratory distress, Dyspnea ORPHA:2707
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Hydrops fetalis, Polyhydramnios, Congenital diaphragmatic hernia OMIM:616546
Loeys-Dietz Syndrome 4
Emphysema, Aortic root aneurysm, Aortic dissection, Pneumothorax, Arterial tortuosity, Ascending ... OMIM:614816
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Myocardial calcification, Myocardial fibrosis OMIM:234700
Meester-Loeys Syndrome
Flexion contracture, Pulmonary artery aneurysm, Aortic dissection, Dilatation of the cerebral art... OMIM:300989
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Varicose veins, Patent ductus arteriosus ORPHA:33001
Holt-Oram Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:392
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocarditis,... ORPHA:3342
Partial Atrioventricular Septal Defect
Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aort... ORPHA:1330
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Contracture of the distal interphalangeal joint of the fingers, Cryptorchidism, P... ORPHA:83617
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice OMIM:235700
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Recurrent pneumonia, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy,... ORPHA:496641
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Hypovolemic shock, Dehydration, Arrhythmia ORPHA:171876
Abetalipoproteinemia
Hepatic steatosis, Cirrhosis, Respiratory failure, Hepatomegaly, Myopathy, Elevated hepatic trans... ORPHA:14
Short Rib-Polydactyly Syndrome
Abnormality of the liver, Respiratory failure, Situs inversus totalis, Abnormal heart morphology,... ORPHA:1505
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Congenital diaphragmatic hernia, Pulmonary artery ... ORPHA:251071
Leigh Syndrome
Hepatic failure, Multiple joint contractures, Skeletal muscle atrophy, Hypertrophic cardiomyopath... ORPHA:506
Kallmann Syndrome-Heart Disease Syndrome
Right aortic arch, Double outlet right ventricle, Pulmonary artery hypoplasia, Anomalous origin o... ORPHA:2326
Congenital Bile Acid Synthesis Defect Type 2
Hepatic steatosis, Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Pr... ORPHA:79303
Velocardiofacial Syndrome
Tetralogy of Fallot, Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Double ao... OMIM:192430
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Orthostatic hypotension, Ascites, Jaundi... ORPHA:186
Multiple Endocrine Neoplasia, Type Iv
Renal angiomyolipoma, Carcinoma, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adeno... OMIM:610755