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Gene: Lox MGI:96817

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Gene Summary

Name:
lysyl oxidase
Synonyms:
TSC-160,  ras recision gene (rrg)

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal craniofacial morphology Loxem1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Loxem1(IMPC)Mbp HET E15.5 0.00
enlarged spleen Loxem1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Loxem1(IMPC)Mbp HOM   Early adult 0.00
abnormal caudal vertebrae morphology Loxem1(IMPC)Mbp HET   Early adult 1.19×10-06
abnormal skin morphology Loxem1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Loxem1(IMPC)Mbp HET Early adult 0.00
small kidney Loxem1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Loxem1(IMPC)Mbp HET Early adult 0.00
edema Loxem1(IMPC)Mbp HOM E15.5 0.00

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Lox 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.

The table below shows human diseases associated to Lox by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abnormality of connective... ORPHA:91387
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Lipedema
Edema OMIM:614103
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis OMIM:185500
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Intramuscular hema... ORPHA:79
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Increased circulating lactate dehydrogenase concentration, Axial muscle ... ORPHA:254361
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... ORPHA:465
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Distal 7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm ORPHA:261102
Pulmonary Atresia With Intact Ventricular Septum
Pulmonary artery atresia, Hypoplastic right heart OMIM:265150
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... ORPHA:60033
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dy... ORPHA:2038
Familial Aortic Dissection
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extrac... ORPHA:229
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Portal hypertension, Emphysema, Hepatic failure, Cerebral berry aneurysm OMIM:210050
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary... OMIM:614096
Fetal Encasement Syndrome
Omphalocele, Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:613630
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insufficiency, Abnormal aortic ... ORPHA:1166
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Sarcoidosis, Susceptibility To, 2
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... OMIM:612387
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia OMIM:614100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... OMIM:108900
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Right ventricular failure, Pulmonary capillary hema... ORPHA:199241
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Alpha-1-Antitrypsin Deficiency
Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonar... OMIM:613490
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia OMIM:306950
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613876
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Congenital diaphragmatic hernia, Patent ductus arterio... ORPHA:1120
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Left atrial enlargement OMIM:612201
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia, Ascending tub... OMIM:219100
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse OMIM:614676
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Hepatitis, Jaundice ORPHA:60
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Neonatal respiratory distress, Spinal muscular atrophy, Patent ductus ar... OMIM:616867
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... ORPHA:70587
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... OMIM:614980
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hypoxem... ORPHA:2847
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia ORPHA:99811
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Microphthalmia, Syndromic 12
Neonatal death, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:615524
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Periventricular Nodular Heterotopia
Aortic regurgitation, Abnormal bleeding, Patent ductus arteriosus, Hernia, Aortic aneurysm ORPHA:98892
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... ORPHA:206546
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Crackles, Tachypnea, Choreoathetosis, Cough, Oxygen desaturation on exertio... OMIM:610978
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... ORPHA:185
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abnormality of connective... ORPHA:91387
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... ORPHA:3400
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2141
Pulmonary Hypertension, Primary, 1
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... OMIM:178600
Lethal Congenital Contracture Syndrome 11
Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Pulmonary hypoplasia, Camp... OMIM:617194
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613874
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Inguinal hernia, Prematurely aged appearance, Poor wound healing, Progeroid... OMIM:123700
Aortic Aneurysm, Familial Thoracic 9
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity, Atrial fibrillation OMIM:616166
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:300887
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Pulmonary artery atresia... ORPHA:99050
Birt-Hogg-Dubé Syndrome
Multiple lipomas, Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormality of the pulmonary artery ORPHA:1354
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Congenital Diaphragmatic Hernia
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... ORPHA:2140
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Abnormal internal carotid artery morphology, Flexion contracture, Lower lim... ORPHA:365
Absence Of The Pulmonary Artery
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Nonproductive c... ORPHA:980
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Congestive heart failure, Intracranial hemorrhage, Hypertension, Aortic root aneurys... ORPHA:363618
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Congestive hear... ORPHA:3092
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Cardiomyopathy, Myopathy... ORPHA:86812
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Arthrogryposis multiplex congenita, Unilateral wrist flexion contracture, Pulmonary hypoplasia, K... OMIM:616531
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se... OMIM:615248
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Abnormal hemidi... ORPHA:2257
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Renal Tubular Dysgenesis
Tetralogy of Fallot, Pulmonary hypoplasia ORPHA:3033
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Loeys-Dietz Syndrome 4
Torticollis, Inguinal hernia, Arterial tortuosity, Pneumothorax, Ascending tubular aorta aneurysm... OMIM:614816
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Skeletal muscle atrophy, Facial palsy, Centrally nucleated skel... OMIM:255320
Mass Syndrome
Ascending aortic dissection, Aortic aneurysm OMIM:604308
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Cardiomyopathy, Pulmonary hypoplasia, Neonatal death, Pulmonary ar... OMIM:619003
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Congestive heart failure, Patent ductus a... OMIM:616866
Atrial Fibrillation, Familial, 10
Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement OMIM:614022
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:601163
Hypocomplementemic Urticarial Vasculitis
Ataxia, Dyspnea, Angioedema, Emphysema, Pleural effusion, Restrictive ventilatory defect, Cough, ... ORPHA:36412
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Morbilliform rash, Ecchym... ORPHA:99827
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Progeroid facial appearan... OMIM:613177
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... OMIM:620080
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613694
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Pulmonary insuff... OMIM:245650
Alg3-Cdg
Abnormal circulating enzyme concentration or activity, Lipodystrophy, Coarctation of the descendi... ORPHA:79321
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Coar... OMIM:619178
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Spontaneous pneumothorax, Chronic pulmonary obstruction, Ascending tubular ... OMIM:619825
Tonne-Kalscheuer Syndrome
Broad-based gait, Congenital diaphragmatic hernia, Aggressive behavior, Self-injurious behavior, ... OMIM:300978
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Microphthalmia, Syndromic 9
Inguinal hernia, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent ductus ar... OMIM:601186
Aortic Valve Disease 2
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... OMIM:614823
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Widened atrophic scar, Wrist drop, Muscle fiber atrophy, Poor wound healin... ORPHA:1900
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Ecchymosis, Emphysema, Repeated pneumothoraces, Cigarette-pape... OMIM:130050
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ... OMIM:611812
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, Mitral ... ORPHA:324604
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... OMIM:616733
Takayasu Arteritis
Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial stenosis, Ascending tubular aort... ORPHA:3287
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... OMIM:617168
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Anorexia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmo... ORPHA:330012
Igg4-Related Aortitis
Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Ascending tubular aorta aneury... ORPHA:449400
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Inability to walk, Ataxia, Pulmonary hypoplasia OMIM:618174
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Venous insuffi... ORPHA:90308
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ... OMIM:619040
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Stroke-like episode OMIM:540000
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Congenital diaphragmatic her... OMIM:208050
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root ane... OMIM:614437
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Elevated circulating alanine aminotransferase concentration, Left super... OMIM:613759
Meacham Syndrome
Death in infancy, Stillbirth, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Parti... OMIM:608978
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Congenital diaphragmatic hernia, Retinal telangiectasia ORPHA:438134
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia OMIM:619699
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis, Camptodactyly of finger ORPHA:896
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Vasculitis, Bronchiec... ORPHA:1572
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Lipoatrophy, Flexion contracture, Heart m... ORPHA:284979
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Tangier Disease
Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor... OMIM:205400
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure,... ORPHA:60041
Keutel Syndrome
Recurrent respiratory infections, Pulmonary artery stenosis, Ventricular septal defect, Recurrent... ORPHA:85202
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, ... OMIM:300219
Congenital Contractural Arachnodactyly
Camptodactyly of finger, Flexion contracture, Congenital contracture, Arthrogryposis multiplex co... ORPHA:115
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whee... OMIM:620233
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Tetralogy of Fallot, Left ventricular outflow tract obstruction, Coarctati... OMIM:615779
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Facial d... ORPHA:171430
Serkal Syndrome
Pulmonic stenosis, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:613251
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia OMIM:613124
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Pulmonary hypoplasia, Neonatal death, Art... OMIM:253310
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, I... ORPHA:258
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi... ORPHA:251071
Waardenburg Syndrome Type 2
Premature graying of hair, Abnormality of the pulmonary artery ORPHA:895
Giant Cell Arteritis
Pericarditis, Ataxia, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Anorexia, Recu... ORPHA:397
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Proger... ORPHA:2962
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta OMIM:241550
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Pulmonary fibrosis, Portal hypertension OMIM:620365
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Congenital diaphragmatic hernia, Flexion contracture, Abnormal lung lobation, Pulmon... OMIM:263210
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Inguinal hernia, Vascular dilatation, Congestive heart fai... ORPHA:90349
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Inguinal hernia, Lipodystrophy, Subretinal pigment epithelium hemorrhage, ... ORPHA:357074
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Increased QRS voltage, Heart mur... ORPHA:3093
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Pulmonary artery stenosis, Knee flexion contracture, Sacral lipoma, Ca... ORPHA:435938
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Prematurely aged appearance, Femoral hernia, Hiatus ... ORPHA:3342
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Anorexia, Ground-glass opacification, Cra... ORPHA:1302
Meacham Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal lung lobation, Conotruncal de... ORPHA:3097
Farber Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal circulating enzyme concentration... ORPHA:333
Nphp3-Related Meckel-Like Syndrome
Pulmonary hypoplasia ORPHA:3032
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Abnormality of the pulmonary artery, Ataxia ORPHA:1065
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Heart Defects, Congenital, And Other Congenital Anomalies
Double outlet left ventricle, Inguinal hernia, Ventricular septal defect, Congenital diaphragmati... OMIM:600001
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Cerebral hemo... OMIM:619897
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Sudden cardiac death, Pulmonary a... ORPHA:991
Cap Myopathy
Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal muscle fiber morpholog... ORPHA:171881
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Lymphoproliferative disorder, Autoimmune thrombocytopenia, Spleno... OMIM:614470
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia, Joint contracture, Camptodactyly OMIM:617055
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon... ORPHA:2414
Cardiomyopathy, Dilated, 1V
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:613697
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Rin2 Syndrome
Umbilical hernia, Bruising susceptibility, Aortic aneurysm ORPHA:217335
Alagille Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Pulmonic stenosis OMIM:610205
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Aplasia/Hypoplasia of the lungs, Inguinal hernia, Abnormal lung lobation, Congenital diaphragmati... ORPHA:2063
Lymphatic Malformation 2
Lymphedema OMIM:611944
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Inguinal hernia, Prematurely aged appearance, Congestive heart failure, Dil... ORPHA:90348
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Anomalous origin of left coronary artery from the pulmonary arter... ORPHA:2326
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Hepatomegaly, Ventricular hypertrophy OMIM:619048
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Transient ischemic attack, Angina pectoris, Tel... ORPHA:324
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Muscular dystrophy,... OMIM:613156
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Spondylospinal Thoracic Dysostosis
Arthrogryposis multiplex congenita, Pulmonary hypoplasia OMIM:601809
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Intraalveolar phospholipid accumulation, Abnormal pulmonary in... ORPHA:217563
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Pulmonary Hypertension, Primary, 5
Right ventricular hypertrophy OMIM:265400
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology ORPHA:1455
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation OMIM:226100
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax... ORPHA:538
Congenital Myopathy 12
Pulmonary artery stenosis, Jaw contracture, Joint contracture of the hand, Camptodactyly OMIM:612540
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Spontaneous pneumothorax, Congestive heart failure, Des... ORPHA:558
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Cough, Atelectasis, Cellulitis, Generalized abnormality of skin... ORPHA:2314
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pneumonia, Abnormally loud p... ORPHA:99104
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy... OMIM:608751
Congenital Rubella Syndrome
Patent ductus arteriosus, Abnormality of the pulmonary artery, Jaundice ORPHA:290
Netherton Syndrome
Urticaria, Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Abnormal aortic morpho... ORPHA:1926
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Oligomeganephronia
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Hypertension, Pulmonary hypoplasia, ... ORPHA:2260
Scleromyxedema
Abnormal coronary artery morphology, Transient ischemic attack, Aged leonine appearance, Raynaud ... ORPHA:167635
Attrv122I Amyloidosis
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert... ORPHA:85451
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Hypertrophic cardiomyopathy, Stillbirth, Aortic valve stenosis, Pulmonary... OMIM:615415
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:618228
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Ogden Syndrome
Pulmonary artery stenosis, Torticollis, Ventricular septal defect, Inguinal hernia ORPHA:276432
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Aortic aneurysm, Limb hypertonia OMIM:620070
Marfan Syndrome
Aortic regurgitation, Reduced subcutaneous adipose tissue, Decreased muscle mass, Tricuspid regur... OMIM:154700
13Q12.3 Microdeletion Syndrome
Recurrent respiratory infections, Hyperactivity, Congenital diaphragmatic hernia, Camptodactyly, ... ORPHA:412035
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Cough, Acrocyanosis, Vasculitis, Respiratory insuffic... ORPHA:183
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Cou... ORPHA:81
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
2Q37 Microdeletion Syndrome
Eczema, Congenital diaphragmatic hernia, Abnormal aortic morphology, Tracheomalacia, Umbilical he... ORPHA:1001
Cardiomyopathy, Familial Hypertrophic, 16
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy OMIM:613838
Congenital Heart Defects And Skeletal Malformations Syndrome
Repeated pneumothoraces, Congenital diaphragmatic hernia, Coarctation of aorta, Aortic root aneur... OMIM:617602
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Omphalocele, Recurrent respiratory infections, Patent ductus arteriosus, Pulmonary hypoplasia, Pu... OMIM:618316
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Absent pulse, Tricuspid regurgitation, Pa... ORPHA:2299
Atelosteogenesis, Type Ii
Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency OMIM:256050
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
1Q41Q42 Microdeletion Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:250999
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Attention deficit hyperactivity disorder, Recurrent upper respiratory tract inf... ORPHA:284180
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Tachypnea, Double outlet right ventricle, Heart murmur, Coarctation of aor... ORPHA:3426
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Respiratory distress, Increased circulating lactate dehydro... ORPHA:319213
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Hypertrophic card... OMIM:615418
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Inguinal hernia, Congenital diaphragmatic hernia, ... OMIM:609029
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmona... OMIM:620025
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Cyanosis, Congestive... ORPHA:3309
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy ORPHA:444013
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Adams-Oliver Syndrome 5
Inguinal hernia, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Umbilical hernia, Pat... OMIM:616028
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Patent ductus arteriosus, Flexion contracture, Pul... OMIM:608149
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Low-output congestive heart failure, Myopathy, Hypertrophic cardi... ORPHA:91130
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Loeys-Dietz Syndrome 6
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... OMIM:619656
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Distal amyotrophy, Double outlet right ventricle, Persistent left superior vena... ORPHA:477817
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis OMIM:613873
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Recurrent lower respiratory tract in... OMIM:619632
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... ORPHA:2255
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Congenital diaphragmatic hernia OMIM:166300
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Inguinal hernia, Congenital diaphragmatic hernia, Coarctatio... ORPHA:2409
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Pleural effusion, Pulmonic stenosis, Atrial ... OMIM:615355
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... ORPHA:99095
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Akinesia, Respiratory insufficiency, Genera... ORPHA:994
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Neonatal death, Arthrogryposis multiplex congenita, Stillbirth, Pulmonary hypoplasia OMIM:236500
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Transposi... OMIM:313850
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis OMIM:242700
Meckel Syndrome, Type 7
Inguinal hernia, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Atrial sep... OMIM:267010
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Ventricular septal defect, Lipoma, Subvalvular aortic steno... OMIM:613001
Seckel Syndrome 9
Recurrent respiratory infections, Pulmonary artery hypoplasia, Asthma, Congenital diaphragmatic h... OMIM:616777
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... OMIM:175050
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Coarctation of aorta, Hypertension, Recurrent bronchiolitis OMIM:616069
Dextrocardia
Abnormal EKG, Abnormal lung lobation, T-wave inversion, Congenital malformation of the great arte... ORPHA:1666
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Keutel Syndrome
Sinusitis, Miscarriage, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmonic... OMIM:245150
Right Atrial Isomerism
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... OMIM:208530
Fragile X Syndrome
Ascending tubular aorta aneurysm, Sinusitis ORPHA:908
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Atrioventricular block, Lethargy, Abnormal EKG, Intercostal retractions, Ele... ORPHA:1329
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Cough, Dyspnea, Strido... ORPHA:2004
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Focal Dermal Hypoplasia
Omphalocele, Acute hepatic failure, Inguinal hernia, Telangiectasia of the skin, Diastasis recti,... ORPHA:2092
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle OMIM:614654
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion contracture, Pulmonary hy... OMIM:619708
Thanatophoric Dysplasia
Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:2655
Trimethylaminuria
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia OMIM:602079
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Pulmonary hypoplasia ORPHA:1486
Emanuel Syndrome
Recurrent respiratory infections, Inguinal hernia, Multiple joint contractures, Congenital diaphr... ORPHA:96170
Mosaic Trisomy 1
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture,... ORPHA:1692
Matthew-Wood Syndrome
Abnormal lung morphology, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:2470
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Phace Association
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... OMIM:606519
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Knee flexion contracture, Distal amyotroph... ORPHA:3208
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Camptodactyly of finger, Congenital diaphragmatic hernia, Anomalous pulmonary ve... ORPHA:2311
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Aplasia of the left hemidiaphragm, Ventric... OMIM:618901
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Inguinal hernia, Neonatal respiratory distress, Camptodactyly of finger,... ORPHA:2990
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia... OMIM:244400
Epidermal Nevus Syndrome
Lipoma, Weakness of long finger extensor muscles, Rhabdomyosarcoma, Aortic aneurysm ORPHA:35125
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Atax... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle weakness, Waddling gait, Atax... ORPHA:98914
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn... ORPHA:98913
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Pneumothorax, Pulmonary hypoplasia, Lethargy, Limb... OMIM:620306
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis OMIM:606445
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Werner Syndrome
Skeletal muscle atrophy, Lipodystrophy, Lipoatrophy, Abnormal cerebral vascular morphology, Pulmo... ORPHA:902
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Ventricular septal defect, Congenital diaphragmatic hernia ORPHA:2143
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Fryns Syndrome
Omphalocele, Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic mo... ORPHA:2059
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeate... ORPHA:536467
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Reduced respiratory ciliary beating frequency, Pa... OMIM:618300
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Nephronophthisis 2
Respiratory insufficiency, Hypertension, Respiratory failure, Pulmonary hypoplasia, Pulmonary ins... OMIM:602088
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Kleefstra Syndrome
Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art... ORPHA:261494
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Cough, Atelectasis, Hepatiti... ORPHA:73263
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Sarcoidosis, Susceptibility To, 1
Anorexia, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmona... OMIM:181000
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy ORPHA:335
Pallister-Hall-Like Syndrome
Death in infancy, Pulmonary hypoplasia OMIM:241800
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Oculofaciocardiodental Syndrome
Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car... ORPHA:2712
Pentalogy Of Cantrell
Omphalocele, Absent gallbladder, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Polysplen... ORPHA:1335
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Cyanosis, Partial anomalous pulmonary venous return, Right aortic arch, Interru... OMIM:617478
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Inguinal hernia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular... OMIM:300998
Loeys-Dietz Syndrome
Abnormal bleeding, Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus ar... ORPHA:60030
Cardiomyopathy, Familial Hypertrophic, 10
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme... OMIM:608758
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:601494
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Macroglossia, Pulmonary hypoplasia, Increased variabi... OMIM:617022
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia, Abnormal form of the vertebral bodies ORPHA:1802
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness... ORPHA:268
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Omphalocele, Congenital diaphragmatic hernia ORPHA:1834
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Mildly reduced left ventricular ejecti... ORPHA:99094
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Respiratory tract infectio... ORPHA:805
Macs Syndrome
Prolonged bleeding time, Dilation of Virchow-Robin spaces, Bronchiectasis, Umbilical hernia, Brui... OMIM:613075
Immunodeficiency 49
Umbilical hernia, Pulmonary artery stenosis OMIM:617237
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Portal hypertension, Tachypnea, Abnormal pulmonar... OMIM:613658
Teebi Hypertelorism Syndrome 1
Omphalocele, Aortic root aneurysm, Pulmonary hypoplasia OMIM:145420
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Transposition of the great arteries, Persistent left superior vena cava, Pulmonar... OMIM:314390
Esophageal Atresia
Omphalocele, Recurrent respiratory infections, Respiratory distress, Cyanosis, Bronchitis, Episod... ORPHA:1199
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Ataxia, Subcutaneous hemorrhage, Pulmonary hemorrhage OMIM:603585
Alport Syndrome
Cough, Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, D... ORPHA:63
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Aorta Coarctation
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... ORPHA:1457
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Arthrogryposis multiplex congenita, Right ventricular hy... OMIM:613404
Grange Syndrome
Aortic regurgitation, Hypertension, Patent ductus arteriosus, Arterial stenosis ORPHA:79094
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... OMIM:619351
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger,... ORPHA:261330
Renal Tubular Dysgenesis
Respiratory insufficiency, Pulmonary hypoplasia, Hypotension OMIM:267430
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Telangiectasia, Intracranial hemorrhage, Myopathy, Arte... ORPHA:109
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Multiple Pterygium Syndrome, Lethal Type
Amyoplasia, Flexion contracture, Pulmonary hypoplasia, Akinesia OMIM:253290
Recombinant 8 Syndrome
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery st... ORPHA:96167
Alkaptonuria
Aortic aneurysm, Coronary artery calcification, Thickened Achilles tendon OMIM:203500
Contractures-Developmental Delay-Pierre Robin Syndrome
Atrial septal defect, Inguinal hernia, Wrist flexion contracture, Peripheral pulmonary artery ste... ORPHA:436003
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Akinesia, Pulmonary hypoplasia, Dysphagia, Neonatal death, Arthrogry... OMIM:608013
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:610655
Mycophenolate Mofetil Embryopathy
Tracheomalacia, Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:268249
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Multiple Osteochondromas
Pneumothorax, Pseudoaneurysm, Hemothorax ORPHA:321
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... ORPHA:98915
Osteogenesis Imperfecta, Type I
Bruising susceptibility, Dentinogenesis imperfecta, Aortic aneurysm OMIM:166200
Sneddon Syndrome
Cutis marmorata, Arterial stenosis, Intracranial hemorrhage, Hypertension, Vascular skin abnormality ORPHA:820
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Diamond-Blackfan Anemia 10
Respiratory distress, Patent ductus arteriosus, Congenital diaphragmatic hernia, Morgagni diaphra... OMIM:613309
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia, D... OMIM:184260
Caudal Regression Syndrome
Hypertension, Decreased muscle mass, Pulmonary hypoplasia, Impulsivity ORPHA:3027
Chromosome 1Q41-Q42 Deletion Syndrome
Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:612530
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Distal Triplication 15Q
Patent ductus arteriosus, Hypoplastic aortic arch, Flexion contracture, Pulmonary hypoplasia, Her... ORPHA:314588
Cooper-Jabs Syndrome
Umbilical hernia, Respiratory insufficiency, Camptodactyly of finger, Congenital diaphragmatic he... ORPHA:1488
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Relapsing Polychondritis
Pericarditis, Atelectasis, Myocarditis, Erythema, Dyspnea, Hepatitis, Large vessel vasculitis, Co... ORPHA:728
Tempi Syndrome
Transudative pleural effusion, Facial erythema, Intracranial hemorrhage, Telangiectasia, Hypoxemi... ORPHA:284227
Zaki Syndrome
Patent ductus arteriosus, Congenital diaphragmatic hernia OMIM:619648
Noonan Syndrome With Multiple Lentigines
Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal... ORPHA:500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy OMIM:613153
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Anorexia, Productive cough, Nonproductive cough, D... ORPHA:31204
Idiopathic Pulmonary Arterial Hypertension
Abnormal jugular vein morphology, Abnormality of connective tissue, Right ventricular hypertrophy ORPHA:275766
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Trisomy 1Q
Omphalocele, Patent ductus arteriosus, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Craniofrontonasal Dysplasia
Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:1520
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Pleural effusion, Flexion contracture, Pulmonary hypoplasia OMIM:616897
Meester-Loeys Syndrome
Aortic dissection, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cere... OMIM:300989
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Pancreatic islet-cell hyperplasia, Interrupted aort... OMIM:267000
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Ataxia, Choreoathetosis, Lethargy ORPHA:71277
Multiple Pterygium Syndrome, X-Linked
Amyoplasia, Flexion contracture, Pulmonary hypoplasia OMIM:312150
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Achilles tendon contracture, Congenita... ORPHA:363528
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:958
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Mixed total anomalous pulmonary venous connection, Apneic episodes in infan... ORPHA:99125
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Inguinal hernia, Spontaneous pneumothorax, Arterial tortuosity, Descending ... OMIM:610168
X-Linked Mandibulofacial Dysostosis
Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Renal Hypodysplasia/Aplasia 1
Hypertension, Pulmonary hypoplasia OMIM:191830
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy ORPHA:401866
Distal Deletion 15Q
Congenital diaphragmatic hernia, Double outlet right ventricle with doubly committed ventricular ... ORPHA:1596
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctat... OMIM:618454
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Abnormal heart morphology, Macroglossia, Umbilical... OMIM:614608
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Aplasia of the left hemidiaphragm, Pulmonary hypoplasia ORPHA:2437
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger,... OMIM:607015
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Respiratory failure, Pulmonary hypoplasia, Respiratory distress OMIM:617895
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Choreoathetosis, Patent ductus arteriosus, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:614080
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Gait disturbance, Coronary arte... ORPHA:1192
Ataxia-Telangiectasia-Like Disorder 2
Conjunctival telangiectasia, Ataxia, Congenital diaphragmatic hernia, Progeroid facial appearance... OMIM:615919
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Inguinal hernia, Polysplenia, Congenital diaphragmatic hernia OMIM:614294
Lateral Meningocele Syndrome
Decreased muscle mass, Inguinal hernia, Patent ductus arteriosus, Umbilical hernia, Keloids, Aort... OMIM:130720
Short-Rib Thoracic Dysplasia 12
Omphalocele, Inguinal hernia, Atelectasis, Patent ductus arteriosus, Respiratory insufficiency, P... OMIM:269860
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Schisis Association
Omphalocele, Congenital diaphragmatic hernia ORPHA:63862
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... OMIM:613795
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Asplenia, Patent ductus arteriosus, Partial anomalous pulmonary venous ... OMIM:619657
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis, Respiratory insufficiency ORPHA:2901
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Atrial septal defect, Arthrogryposis multiplex congenita, Patent foram... OMIM:208085
Chromosome 13Q33-Q34 Deletion Syndrome
Hyperactivity, Aggressive behavior, Patent ductus arteriosus, Small thenar eminence, Pulmonary hy... OMIM:619148
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries OMIM:231060
Jansen-De Vries Syndrome
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve OMIM:617450
White Sponge Nevus 2
Edema OMIM:615785
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Thakker-Donnai Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Congenital diaphragmatic hernia ORPHA:1780
Tangier Disease
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Facial diplegia, Left v... ORPHA:31150
Kawasaki Disease
Pericarditis, Recurrent pharyngitis, Congestive heart failure, Vasculitis, Myocarditis, Abnormal ... ORPHA:2331
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Recurrent respiratory infections ORPHA:1548
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Coarctat... ORPHA:2745
Peroxisome Biogenesis Disorder 1A (Zellweger)
Neonatal respiratory distress, Patent ductus arteriosus, Unsteady gait, Dysphagia, Death in child... OMIM:214100
Duodenal Atresia
Abnormality of the pulmonary artery ORPHA:1203
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Dyspha... OMIM:601559
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Recurrent skin infections, Splenomegaly, Coarctat... OMIM:620210
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Aspiration pneumonia, Left ... OMIM:619167
7Q11.23 Microduplication Syndrome
Inguinal hernia, Collectionism, Cutis marmorata, Hyperactivity, Congenital diaphragmatic hernia, ... ORPHA:96121
Meckel Syndrome 14
Tricuspid regurgitation, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ... OMIM:619879
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Neonatal respiratory distress, Congenital diaphragm... OMIM:265000
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Dysphagia, Intracranial hemorr... ORPHA:136
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Emphysema, ... OMIM:619472
Marden-Walker Syndrome
Decreased muscle mass, Inguinal hernia, Congenital contracture, Pulmonary hypoplasia, Camptodacty... OMIM:248700
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Ascending aorta hypoplasia, Neonatal asphyxia, Abnormal lung morp... ORPHA:141127
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Inguinal hernia, Lipodystrophy, Excess... ORPHA:2834
Congenital Myopathy 22B, Severe Fetal
Waddling gait, Hip contracture, Scapular winging, Respiratory distress, Limb joint contracture, S... OMIM:620369
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Telangiectasia, Coarctation of aorta,... ORPHA:101028
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki... ORPHA:137914
Brachytelephalangic Chondrodysplasia Punctata
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du... ORPHA:79345
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis OMIM:620010
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Prolonged QRS complex, Apnea, Left axis deviation, Congestive hea... OMIM:261740
Alagille Syndrome
Atrial septal defect, Hepatomegaly, Ventricular septal defect, Peripheral pulmonary artery stenosis ORPHA:52
Dyssegmental Dysplasia, Silverman-Handmaker Type
Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency OMIM:224410
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Broad-based gait, Inguinal hernia, Congestive heart failure, Pa... OMIM:601808
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hepatomegaly, Inguinal hernia, Peripheral pulmonary artery stenosis, Ventricular septal defect, P... OMIM:280000
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta ORPHA:261243
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Heart murmur, Coarctation of aorta, Hypertension, Asc... ORPHA:402075
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Uterine prolapse, Inguinal hernia, Arterial dissection, Camptodactyly of fi... ORPHA:284984
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Omphalocele, Congenital diaphragmatic hernia ORPHA:887
Down Syndrome
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... OMIM:190685
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Atrial septal defect, Peripheral pulmonary artery stenosis OMIM:614749
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Bulimia, Livedo reticularis, Mitral regurgitation, Pulmonary arterial hyper... OMIM:614651
Sarcoidosis
Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Ventricular tachycardia,... ORPHA:797
Cln3 Disease
Left ventricular hypertrophy ORPHA:228346
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Histiocytoid c... OMIM:309801
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Meier-Gorlin Syndrome 6
Tracheobronchomalacia, Recurrent respiratory infections, Emphysema, Umbilical hernia OMIM:616835
Cardiac-Valvular Ehlers-Danlos Syndrome
Inguinal hernia, Abnormal heart valve morphology, Mitral valve prolapse, Atrophic scars, Aortic r... ORPHA:230851
Thanatophoric Dysplasia, Type I
Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia OMIM:187600
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... OMIM:612098
Ciliary Dyskinesia, Primary, 37
Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinitis, Rhinorrhea OMIM:617577
Partial Atrioventricular Septal Defect
Recurrent respiratory infections, Atrial flutter, Transient ischemic attack, Angina pectoris, Pat... ORPHA:1330
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Jaundice, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Familial Hyperaldosteronism Type Iii
Left ventricular hypertrophy, Intracranial hemorrhage ORPHA:251274
Ehlers-Danlos Syndrome, Classic Type, 1
Inguinal hernia, Poor wound healing, Cigarette-paper scars, Aortic root aneurysm, Recurrent sinus... OMIM:130000
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Contractures of... ORPHA:96179
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno... ORPHA:1677
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Macroglossia, Ataxia, Pneumonia ORPHA:309288
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aort... OMIM:617506
Monosomy 18Q
Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa... ORPHA:1600
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Car... OMIM:616503
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:370079
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Cyanosis, C... ORPHA:31826
Mitochondrial Complex I Deficiency, Nuclear Type 16
Aplasia of the left hemidiaphragm OMIM:618238
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Dpagt1-Cdg
Prolonged QT interval, Elevated hepatic transaminase, Ataxia, Lipodystrophy, Akinesia, Aggressive... ORPHA:86309
Cardiac-Urogenital Syndrome
Tachycardia, Congenital diaphragmatic hernia, Tracheomalacia, Patent ductus arteriosus, Partial a... OMIM:618280
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Tricuspid reg... OMIM:612289
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic r... ORPHA:280633
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupt... ORPHA:536545
White-Sutton Syndrome
Waddling gait, Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia, Aggressive behav... OMIM:616364
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Flexion contracture, Camptodactyly, Emphysema, Joint cont... OMIM:224690
Conotruncal Heart Malformations
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... OMIM:217095
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... OMIM:616564
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Congenital Myopathy 17
Respiratory tract infection, Respiratory insufficiency, Myopathy, Distal arthrogryposis, Pulmonar... OMIM:618975
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
15Q24 Microdeletion Syndrome
Hernia, Congenital diaphragmatic hernia ORPHA:94065
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Pulmonary hypoplasia ORPHA:3035
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Persistent left superior vena cava, Pulmonic stenosis OMIM:609008
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Cerebral hemorrhage, Ischemic stroke, Abnormal cerebral artery morp... ORPHA:90065
Sick Sinus Syndrome 2
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse OMIM:163800
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct... ORPHA:137675
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... ORPHA:97214
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Osteogenesis Imperfecta
Aortic regurgitation, Inguinal hernia, Neonatal respiratory distress, Ataxia, Abnormal dental ena... ORPHA:666
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Dyssegmental Dysplasia, Silverman-Handmaker Type
Flexion contracture, Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:1865
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertrophy OMIM:617713
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Congenital diaphragmatic hernia OMIM:606164
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Cyanosis, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachy... ORPHA:159
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Congestive heart failure, Pneumothorax, Rig... OMIM:617403
Holoprosencephaly
Omphalocele, Congenital diaphragmatic hernia, Respiratory insufficiency, Aplasia/Hypoplasia of th... ORPHA:2162
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Splenomegaly, Pa... ORPHA:84064
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Mitral regurgitation, Camptodactyly OMIM:301039
Mosaic Trisomy 16
Patent ductus arteriosus, Abnormal lung morphology, Coarctation of aorta, Pulmonary hypoplasia, S... ORPHA:1708
Hsd10 Disease, Infantile Type
Restlessness, Abnormal circulating enzyme concentration or activity, Cyanosis, Choreoathetosis, D... ORPHA:391428
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs ORPHA:2204
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Raynaud phenomenon, Calcification... ORPHA:51
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Abnormal vertebral... ORPHA:93476
Blau Syndrome
Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, Erythema nodosum, Splenomegaly, D... ORPHA:90340
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Death in child... OMIM:618651
Contractural Arachnodactyly, Congenital
Hip contracture, Patent ductus arteriosus, Elbow flexion contracture, Knee flexion contracture, A... OMIM:121050
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor... ORPHA:563
Shprintzen-Goldberg Craniosynostosis Syndrome
Inguinal hernia, Minimal subcutaneous fat, Camptodactyly, Umbilical hernia, Joint contracture of ... OMIM:182212
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis ORPHA:2248
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... OMIM:245600
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Seckel Syndrome 10
Acute pancreatitis, Congestive heart failure, Hypertension, Hepatic steatosis, Abdominal aortic a... OMIM:617253
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Sinus tachycardia, Telangiectasia of the skin, My... ORPHA:221
Cold Agglutinin Disease
Back pain, Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:56425
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Hypertension, Pulmonary hypoplasia, Neonatal death OMIM:263200
Atrial Septal Defect 2
Aortic regurgitation, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis OMIM:607941
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Diaphanospondylodysostosis
Respiratory distress, Inguinal hernia, Respiratory insufficiency, Pulmonary hypoplasia, Tracheoma... OMIM:608022
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Arthrogryposis multiplex congenita, Pulmonary hypoplasia ORPHA:86822
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Cholestasis, Coarctation of aorta, Prolonged prothrombin time, Portal fi... OMIM:614300
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Granulomatous Disease, Chronic, X-Linked
Cough, Atelectasis, Recurrent pneumonia, Air bronchogram, Decreased activity of NADPH oxidase, Ce... OMIM:306400
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Heart murmur ORPHA:1867
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cyanosis, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right vent... ORPHA:3304
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Inguinal hernia, Abnormal dental enamel morphology, Retinal arteriol... ORPHA:567
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Coarctation of aorta OMIM:614114
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P... ORPHA:401935
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... ORPHA:163956
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Ehlers-Danlos Syndrome, Classic-Like, 2
Ventral hernia, Inguinal hernia, Prominent superficial veins, Carotid artery stenosis, Atypical s... OMIM:618000
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Ataxia, Myocardial inf... ORPHA:117
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Ogden Syndrome
Peripheral pulmonary artery stenosis, Torticollis, Inguinal hernia, Bicuspid aortic valve, Left a... OMIM:300855
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Emphysema ORPHA:289
Apparent Mineralocorticoid Excess
Left ventricular hypertrophy, Stroke ORPHA:320
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... OMIM:600376
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ascending tubular aorta aneurysm, Flexion contracture OMIM:309520
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Congenital diaphragmatic hernia, Umbilical hernia, Diaphr... OMIM:222448
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypoplastic left hea... OMIM:100300
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Tarp Syndrome
Broad-based gait, Cyanosis, Apnea, Pulmonary hypoplasia, Tetralogy of Fallot, Persistent left sup... ORPHA:2886
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis OMIM:126320
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Recurrent upper respiratory tr... ORPHA:264450
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Cardiac Valvular Dysplasia 1
Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular... OMIM:212093
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Patent ductus arteriosus, Partial anomalous ... OMIM:270100
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Ataxia, Apnea, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, G... OMIM:619580
Achondrogenesis
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Inguinal hernia ORPHA:932
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Interrupted inferior vena cava with azygous continuation, Cong... OMIM:618846
Renal-Hepatic-Pancreatic Dysplasia 1
Portal hypertension, Patent ductus arteriosus, Pulmonary hypoplasia, Neonatal death, Aortic valve... OMIM:208540
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Left ventricular hypertrophy, Ventricular septal defect, Patent foramen ovale, Biventricular hype... OMIM:615474
Intellectual Developmental Disorder, Autosomal Dominant 66
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation OMIM:619910
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Atrial flutter, Overriding aorta, Patent ductus arteriosus, Vascular ring OMIM:601927
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Genitopatellar Syndrome
Hip contracture, Apnea, Knee flexion contracture, Pulmonary hypoplasia, Arthrogryposis multiplex ... ORPHA:85201
Van Esch-O'Driscoll Syndrome
Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect OMIM:301030
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphoma, Burkitt lymphoma, Lymphocytosis, Hemophago... OMIM:308240
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta OMIM:215045
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Recurrent respiratory infections, Death in infancy, Jaundice, Respiratory insufficiency, Pulmonar... OMIM:208500
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Loeys-Dietz Syndrome 1
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... OMIM:609192
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Vascular ring, Mitral regurgitation, Knee flexion contracture OMIM:603387
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Abnormal repetitive mannerisms, Restrictive behavior, Hyperactivity, ... OMIM:619475
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the lungs, Multiple joint contractures, Camptodactyly of finger, Abnormal p... ORPHA:2570
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Cardiomegaly, Respiratory tract infection, Macroglossia, Left ven... ORPHA:308552
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Cough, Dilatation ... ORPHA:1054
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P... OMIM:300707
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta OMIM:301022
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal respiratory distress, Congenital diaphragmatic hern... OMIM:194080
Genitopalatocardiac Syndrome
Abnormal mesentery morphology, Abnormality of the gallbladder, Congenital diaphragmatic hernia ORPHA:2075
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:616546
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Camptodactyly of finger, Coarctation of aorta ORPHA:2876
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis, Stroke ORPHA:268943
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Patent ductus arteriosus, Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia OMIM:616300
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Peripheral arteriovenous fistula, Prematurely aged appearance, Cigarette-pap... ORPHA:286
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Premature graying of hair, Premat... ORPHA:79474
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Femoral hernia ORPHA:93298
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Partial anomalou... OMIM:301068
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Inguinal hernia, Multiple joint contractures, Flexion contracture, Elbow f... ORPHA:536471
Cirrhotic Cardiomyopathy
Hepatomegaly, Pulmonary edema, Left atrial enlargement, Cardiomegaly, Left ventricular hypertroph... ORPHA:57777
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger,... ORPHA:261349
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Alg9-Cdg
Omphalocele, Torticollis, Tricuspid regurgitation, Lipodystrophy, Hypoplasia of the musculature, ... ORPHA:79328
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Bilateral trilobed lung, Respiratory distress, Cyanosis, Mitral stenosis, Patent duc... OMIM:306955
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Prune Belly Syndrome
Recurrent respiratory infections, Patent ductus arteriosus, Aplasia of the abdominal wall muscula... ORPHA:2970
Immunodeficiency 23
Recurrent respiratory infections, Ataxia, Allergic rhinitis, Asthma, Erythema, Bronchiectasis, Ao... OMIM:615816
Velocardiofacial Syndrome
Inguinal hernia, Aggressive behavior, Interrupted aortic arch, Unilateral primary pulmonary dysge... OMIM:192430
Mucolipidosis Type Ii
Aortic regurgitation, Recurrent respiratory infections, Hip contracture, Abnormal atrioventricula... ORPHA:576
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Umbilical hernia, Femoral hernia ORPHA:93299
Heterotaxy, Visceral, 6, Autosomal
Right aortic arch, Abdominal situs inversus, Total anomalous pulmonary venous return, Transpositi... OMIM:614779
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology ORPHA:3405
Tetrasomy 15Q26
Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly OMIM:614846
Raine Syndrome
Death in infancy, Elevated circulating alkaline phosphatase concentration, Pulmonary hypoplasia, ... OMIM:259775
Microcephaly-Micromelia Syndrome
Neonatal death, Pulmonary hypoplasia OMIM:251230
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia ORPHA:1915
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Inguinal hernia, Atrophic scars, Mitral regurgitation, Bruising susceptibility OMIM:225320
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Patent ductu... ORPHA:818
Fabry Disease
Left ventricular hypertrophy, Transient ischemic attack, Ventricular septal hypertrophy OMIM:301500
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Inguinal hernia, Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Pulmonary arterial hy... OMIM:614857
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea, Rhabdomyosarcoma, Abnormal lung lobation, Coarctation of aorta, Abno... ORPHA:1052
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia ORPHA:1647
Cerebellar-Facial-Dental Syndrome
Inguinal hernia, Foot joint contracture, Ascending tubular aorta aneurysm, Abnormal T-wave, Limb ... ORPHA:444072
Proximal 16P11.2 Microdeletion Syndrome
Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morphology, Abnormal aortic valve m... ORPHA:261197
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Overfriendliness, Intraventricular hemorrh... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Overfriendliness, Intraventricular hemorrh... ORPHA:363958
Metatropic Dysplasia
Aplasia/Hypoplasia of the lungs, Camptodactyly of finger ORPHA:2635
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Noonan Syndrome
Hepatomegaly, Pulmonary artery stenosis, Aplasia/Hypoplasia of the abdominal wall musculature, Ab... ORPHA:648
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:619575
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta ORPHA:1923
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrophy, Lower limb muscl... ORPHA:746
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Inguinal hernia, Femoral hernia, Conotruncal defect, Coarctation of aorta, ... ORPHA:96147
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Transient ischemic attack, Patent ductus arteriosus after birth at term... ORPHA:500150
Tetraamelia Syndrome 1
Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:273395
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous... ORPHA:363705
Acquired Purpura Fulminans
Shock, Hepatic failure, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage ORPHA:49566
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Lymphedema-Distichiasis Syndrome
Varicose veins, Patent ductus arteriosus, Arrhythmia, Abnormality of the pulmonary vasculature ORPHA:33001
Dysbetalipoproteinemia
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... ORPHA:412
Cornelia De Lange Syndrome 1
Inguinal hernia, Cutis marmorata, Pneumonia, Congenital diaphragmatic hernia, Hiatus hernia, Elbo... OMIM:122470
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crackles, Increased DLCO... OMIM:233450
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Hyperactivity, Facial hypotonia, Congenital diaphragmatic hernia... ORPHA:468678
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Thickened aortic valve cusp OMIM:619698
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Inability to walk, Vasculitis, Erythema, Cardiomyopathy, Prolonged... OMIM:225750
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Thanatophoric Dysplasia Type 2
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Respiratory insufficiency ORPHA:93274
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Coronary artery calcification, Myocardial infarction, Carotid arte... OMIM:208000
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Vascular dilatation, Respiratory insufficiency, Congenital diaphragmatic hernia OMIM:617641
Aymé-Gripp Syndrome
Inguinal hernia, Pericarditis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Camptod... ORPHA:1272
Jeune Syndrome
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:474
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Pulmonary hypoplasia, Muscular dystrophy, Arthrogry... ORPHA:2671
Acrorenal-Mandibular Syndrome
Elbow flexion contracture, Pulmonary hypoplasia, Congenital diaphragmatic hernia OMIM:200980
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation, Umbilical hernia, Gait disturbance ORPHA:2181
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Lymphatic Malformation 10
Lymphedema OMIM:619369
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:614091
Hereditary Methemoglobinemia
Athetosis, Cyanosis, Exertional dyspnea ORPHA:621
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger... ORPHA:96334
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia, Coarctation of aorta ORPHA:50945
Hurler Syndrome
Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Flexion contracture, Mac... OMIM:607014
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Ataxia, Abnormal pleura m... ORPHA:1764
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Inguinal hernia, Ventricular septal defect, Dilatation of the ventricular cavity, Pulmonary arter... ORPHA:459070
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... ORPHA:758
Digeorge Syndrome
Inguinal hernia, Femoral hernia, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Chro... OMIM:188400
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:2001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Macroglossia, Ascending tubular aorta aneurysm, Pleural effusion, Bruxism ORPHA:453499
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypoplastic vertebral bodies, Platyspondyly, B... OMIM:618641
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Stroke-li... OMIM:300845
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Autosomal Recessive Amelia
Aplasia/Hypoplasia of the lungs ORPHA:1027
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Kabuki Syndrome
Congenital diaphragmatic hernia, Coarctation of aorta ORPHA:2322
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... ORPHA:392
Renal Agenesis
Hypertension, Pulmonary hypoplasia ORPHA:411709
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Flexion contracture, Stillbirth, Pulmonary hypoplasia, Umbilical hernia OMIM:308050
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinusitis OMIM:615636
Acrocephalopolydactylous Dysplasia
Omphalocele, Pulmonary hypoplasia, Extrapulmonary sequestrum OMIM:200995
Boudin-Mortier Syndrome
Aortic root aneurysm OMIM:619543
Chiari Malformation Type Ii
Cyanosis, Ataxia, Dysphagia, Limb muscle weakness, Inspiratory stridor OMIM:207950
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Atelosteogenesis Type I
Pulmonary hypoplasia ORPHA:1190
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Inguinal hernia, Increased iduronate sulfatase level, Diastasis recti, Cong... OMIM:252500
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Sclerotic vertebral endplates, Anemia OMIM:611490
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Hypoventilation, Spontaneous pneumothorax, Portal hypertension, Jaun... ORPHA:731
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Absence of subcutaneous fat, ... OMIM:616914
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... OMIM:602557
Criss-Cross Heart
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Transposition of the great arteries, Pul... ORPHA:1461
Craniorachischisis
Omphalocele, Congenital diaphragmatic hernia ORPHA:63260
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Sudden cardiac death, Intrahepatic cholestasis, Dyspnea, Rhabdomyolysi... OMIM:614921
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Tricuspid regurgitation OMIM:314400
Achondrogenesis, Type Ia
Stillbirth, Pulmonary hypoplasia OMIM:200600
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Abnormal pulmonary valve morphology, Splenomegaly... ORPHA:667
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Myositis, Pericarditis, Abnormal dental enamel morphology, ... ORPHA:3310
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Bradycardia, Joint contracture of the 5th finger, Truncal ataxia, Acrocya... OMIM:614407
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... OMIM:618164
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Inability to ... OMIM:620066
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Acquired Partial Lipodystrophy
Lymphocytosis ORPHA:79087
Wolf-Hirschhorn Syndrome
Recurrent respiratory infections, Ataxia, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of ... ORPHA:280
Meckel Syndrome, Type 6
Bilobed right lung, Pulmonary hypoplasia OMIM:612284
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Scapular winging, Decreased muscle mass, Inguinal hernia, Hi... OMIM:615582
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis, Increased iduronate sulfatase level OMIM:252605
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Hypertension, Aortic root aneurysm, Self-injurious behavior, ... ORPHA:449291
Chand Syndrome
Atelectasis, Ataxia ORPHA:1401
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Increased circulating lactate de... OMIM:614866
Atelosteogenesis Type Ii
Tracheobronchomalacia, Elbow flexion contracture, Pulmonary hypoplasia, Camptodactyly ORPHA:56304
Kaposiform Lymphangiomatosis
Abnormal thoracic spine morphology, Pancreatic cysts, Splenomegaly, Abnormal sacrum morphology, A... ORPHA:464329
Congenital Disorder Of Glycosylation, Type Iig
Left ventricular hypertrophy, Camptodactyly OMIM:611209
Cranioectodermal Dysplasia 3
Peripheral pulmonary artery stenosis OMIM:614099
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Cutis marmorata, Portal hypertension, Arteriovenous malformation, Pu... ORPHA:974
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Neonatal death, Tetralogy of Fallot, Pulmonary hypoplasia OMIM:617925
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Inguinal hernia, Death in infancy, Abnormal dental enamel morph... ORPHA:534
Smith-Lemli-Opitz Syndrome
Death in infancy, Hyperactivity, Aggressive behavior, Patent ductus arteriosus, Self-mutilation, ... OMIM:270400
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy
Transient ischemic attack, Ataxia, Carotid artery stenosis, Gait apraxia, Dysmetria, Lacunar stro... OMIM:600142
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Ray... ORPHA:48435
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Camptodactyly, Abnorm... OMIM:301044
Isotretinoin-Like Syndrome
Inguinal hernia, Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, A... ORPHA:2306
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension OMIM:616589
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Pericardial effusion, Hepatosplenomegaly, Lower limb hypertonia, Left... OMIM:619487
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Macroglossia, Type 1 muscle fiber atrophy, Nocturnal hypoventilation, Aortic aneurysm ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Macroglossia, Type 1 muscle fiber atrophy, Nocturnal hypoventilation, Aortic aneurysm ORPHA:352665
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Ataxia, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Dravet Syndrome
Impulsivity, Bradykinesia, Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode ORPHA:33069
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Atrophic scars, Joint contracture, Aortic root aneurysm, Respiratory insufficiency OMIM:615349
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs ORPHA:2145
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Abnormal left ventricular function, Pulmonic stenosis, Pulmonary a... OMIM:301056
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Ataxia, Apnea, H... OMIM:618426
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperactivity, Self-injurious behavior, Mitral regurgitation, Arthrogryposi... ORPHA:254346
20Q13.33 Microdeletion Syndrome
Hematochezia, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Facial hypotonia ORPHA:261311
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Limb joint contracture, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Recurrent respiratory infections, Abnormal cerebral vascular morphology, Patent ductus arteriosus... ORPHA:2637
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia OMIM:615503
Skraban-Deardorff Syndrome
Right aortic arch OMIM:617616
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Dilated cardiomyopathy, Limb ... ORPHA:254892
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Congenital co... OMIM:208150
Primary Triglyceride Deposit Cardiomyovasculopathy
Abnormal circulating enzyme concentration or activity, Angina pectoris, Dyspnea, Increased muscle... ORPHA:565612
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis ORPHA:86843
Simpson-Golabi-Behmel Syndrome
Omphalocele, Bundle branch block, Inguinal hernia, Hepatomegaly, Prolonged QT interval, Camptodac... ORPHA:373
Cardiospondylocarpofacial Syndrome
Mitral regurgitation, Hypoplastic aortic arch, Congenital diaphragmatic hernia OMIM:157800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Tortuous cerebral arteries, Premature skin wrinkling, Hernia OMIM:616603
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia ORPHA:514
Transaldolase Deficiency
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Micronodular cirrhosis, Asthma, Coarctation... OMIM:606003
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy OMIM:619355
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar... OMIM:252920
Fryns Syndrome
Omphalocele, Aplasia of the left hemidiaphragm, Stillbirth, Chylothorax, Pulmonary hypoplasia, Ca... OMIM:229850
Reactive Arthritis
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Respiratory insufficiency, Enthes... ORPHA:29207
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumbar vertebrae, Sc... OMIM:252900
Hypermobile Ehlers-Danlos Syndrome
Inguinal hernia, Apnea, Venous insufficiency, Genital hernia, Aplasia/Hypoplasia of the abdominal... ORPHA:285
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Atrial septal defect,... ORPHA:904
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... ORPHA:90068
Larsen Syndrome
Tracheomalacia, Aortic aneurysm OMIM:150250
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy, Apnea, Inspiratory stridor OMIM:600721
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal left ventricle morphology, Ebstein ... ORPHA:466791
Autosomal Dominant Polycystic Kidney Disease
Polycystic liver disease, Pancreatic cysts, Hypertension, Dilatation of the cerebral artery, Aort... ORPHA:730
Otopalatodigital Syndrome Type 2
Omphalocele, Camptodactyly of finger, Pulmonary hypoplasia ORPHA:90652
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Facial hypotonia, At... ORPHA:309282
Breath-Holding Spells
Cyanosis OMIM:607578
Acrofacial Dysostosis 1, Nager Type
Patent ductus arteriosus, Tetralogy of Fallot, Congenital diaphragmatic hernia OMIM:154400
Laryngeal Abductor Paralysis
Stridor, Cyanosis, Dysphagia OMIM:150260
Thanatophoric Dysplasia Type 1
Aplasia/Hypoplasia of the lungs, Excessive wrinkled skin, Patent ductus arteriosus, Respiratory i... ORPHA:1860
Vacterl With Hydrocephalus
Inguinal hernia, Femoral hernia, Pulmonary hypoplasia ORPHA:3412
Sepsis In Premature Infants
Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal... ORPHA:90051
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... ORPHA:911
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Ataxia, Apnea, Ragged-red muscle fibers, Con... OMIM:252010
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Dyspnea, Patent ductus arteriosus, Mitral regurgit... ORPHA:555877
Sotos Syndrome
Hip contracture, Inguinal hernia, Ankle flexion contracture, Aggressive behavior, Small cell lung... ORPHA:821
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t... ORPHA:774
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Neonatal respiratory distress, Facial hypotonia, Diastasis recti, Congenital dia... OMIM:312870
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Generalized muscle h... OMIM:235730
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta ORPHA:261183
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Coarctation of aorta OMIM:217085
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Atypical scarring of skin, Varicose veins, Atrophic scars, Pulmonic stenosis, ... OMIM:618343
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Pulmonary hypoplasia OMIM:263520
Renal Agenesis, Bilateral
Pulmonary hypoplasia ORPHA:1848
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Inguinal hernia, Cutis marmorata, Congenital diaphragmatic hern... OMIM:135900
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Patent ductus arteriosus, Pulmonary hypoplasia ORPHA:1112
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... ORPHA:3380
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Scarring, Hiatus hernia, Pneumoth... OMIM:601776
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Restrictive Dermopathy 1
Prominent superficial blood vessels, Limb joint contracture, Patent ductus arteriosus, Flexion co... OMIM:275210
Pauci-Immune Glomerulonephritis
Cough, Dyspnea, Arteritis, Abnormality of the pulmonary vasculature, Pulmonary hemorrhage, Small ... ORPHA:93126
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Precocious atherosclerosis, Premature graying of hair, Increased int... ORPHA:280365
Oculoauriculovertebral Spectrum With Radial Defects
Aplasia/Hypoplasia of the lungs, EMG: myopathic abnormalities ORPHA:2549
Neu-Laxova Syndrome 1
Patent ductus arteriosus, Yellow subcutaneous tissue covered by thin, scaly skin, Stillbirth, Tra... OMIM:256520
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... ORPHA:3261
Meier-Gorlin Syndrome 7
Heart block, Second degree atrioventricular block, Pulmonary hypoplasia OMIM:617063
Meckel Syndrome, Type 1
Omphalocele, Camptodactyly of finger, Patent ductus arteriosus, Coarctation of aorta, Pulmonary h... OMIM:249000
Greenberg Dysplasia
Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia OMIM:215140
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Tetraploidy
Aplasia/Hypoplasia of the lungs ORPHA:3305
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Kyphosis,... ORPHA:77259
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy... OMIM:300963
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Ovoid thoracolumb... OMIM:252930
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Orthostatic hy... OMIM:606721
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Aminopterin/Methotrexate Embryofetopathy
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia ORPHA:1908
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Double outlet right ventricle OMIM:616652
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre... OMIM:223900
Gaucher Disease, Type Ii
Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Stridor, Cough, Bronchiolitis, Recurrent asp... OMIM:230900
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Mucopolysaccharidosis Type 2
Inguinal hernia, Hyperactivity, Impulsivity, Aggressive behavior, Recurrent upper respiratory tra... ORPHA:580
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Hyperlysinemia
Abnormal circulating enzyme concentration or activity, Hyperactivity, Recurrent pneumonia, Dysmet... ORPHA:2203
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Reduced subcutaneous adipose tissue, Prominent superficial veins, Tricuspid... OMIM:617402
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Restrictive Dermopathy
Multiple joint contractures, Camptodactyly of finger, Patent ductus arteriosus, Ascending tubular... ORPHA:1662
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Carotid artery stenosis, Prominent veins ... ORPHA:536532
Williams-Beuren Syndrome
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Retinal arteriolar tortuosity,... OMIM:194050
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Inguinal hernia, Pulmonary hypoplasia OMIM:271520
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diap... ORPHA:2556
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Poems Syndrome
Lipodystrophy, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, ... ORPHA:2905
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Myocardial infarction, Intracranial hemorrhage, Generalized ... ORPHA:740
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Scapular winging, Inguinal hernia, Bicuspid aortic valve, Inter... OMIM:150230
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatitis, Mucopolysaccha... ORPHA:584
Heart And Brain Malformation Syndrome
Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia OMIM:616920
Verloove Vanhorick-Brubakk Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:3429
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia OMIM:304110
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Patent ductus arteriosus, Aort... OMIM:614557
Menkes Disease
Gastrointestinal hemorrhage, Inguinal hernia, Venous insufficiency, Aplasia/Hypoplasia of the abd... ORPHA:565
Vici Syndrome
Recurrent respiratory infections, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Atrial septal... OMIM:242840
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation OMIM:615476
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Facial palsy, Atrial septal defect, Patent foramen ovale, Right... OMIM:620186
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Transposition of the great arteries, Interrupted aortic arch ORPHA:1727
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Hepatomegaly, Recurrent respiratory infections, Ap... ORPHA:17
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... OMIM:177850
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Aggressive behavior, Gait disturbance, Gait imbalance, Difficulty walking, Dysphagia ORPHA:488627
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... OMIM:264800
Tetraamelia Syndrome 2
Bilateral lung agenesis, Hypoplastic pulmonary veins OMIM:618021
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... OMIM:619652
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Flexion contracture, Generalized limb muscle atrophy OMIM:618891
Acrocardiofacial Syndrome
Death in infancy, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Truncus arterio... ORPHA:2008
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... OMIM:135500
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Vertebral compression fracture, ... OMIM:230800
Koolen-De Vries Syndrome
Eczema, Patent ductus arteriosus, Hypotrophy of the small hand muscles, Aortic root aneurysm, Pul... OMIM:610443
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Neonatal death, Tricuspid regurgitation, Elevated circu... OMIM:619534
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Elevated hepatic transaminase, Hypoventilation, Polydipsia, Cyanosis, Central hypoventilation, Ag... ORPHA:293987
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Unsteady gait, Subdural hemorrhage, Flexi... ORPHA:90324
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Camptodactyly of finger, ... ORPHA:217085
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea, Elevated circulating alanine aminotransferase concentration, Hepatic failure OMIM:261680
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Myasthenia Gravis
Myositis, Raynaud phenomenon, Dyspnea, Hepatitis, Dysphagia, Acrocyanosis ORPHA:589
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Camptodactyly of finger, ... ORPHA:217093
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Sea-blue histiocytosis, ... OMIM:230600
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Schinzel-Giedion Syndrome
Respiratory distress, Inguinal hernia, Recurrent pneumonia, Dysphagia, Macroglossia, Pulmonary hy... ORPHA:798
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Ataxia, Petechiae OMIM:602473
Fanconi Anemia, Complementation Group B
Death in infancy, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta OMIM:300514
Familial Thrombocytosis
Transient ischemic attack, Miscarriage, Peripheral arterial stenosis, Syncope, Cerebral ischemia,... ORPHA:71493
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Pulmonic stenosis, Hypertrophic cardiomyopathy, Bruising ... OMIM:619745
Cranioectodermal Dysplasia 2
Hepatomegaly, Inguinal hernia, Splenomegaly, Patent ductus arteriosus, Recurrent pneumonia, Atria... OMIM:613610
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Eosinophilic Fasciitis
Myositis, Fasciitis, Cellulitis, Muscular edema, Acrocyanosis ORPHA:3165
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Zttk Syndrome
Aortic regurgitation, Patent ductus arteriosus, Unilateral lung agenesis, Flexion contracture OMIM:617140
Pallister-Killian Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Patent ductus a... OMIM:601803
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphra... ORPHA:116
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Torticollis, Facial hypotonia, Patent duc... OMIM:618371
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Interrupted ao... ORPHA:2396
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Transient ischemic attack, Cyanosis... ORPHA:51608
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Recurrent respiratory infections, Camptodactyly of finger, Pulmonary hyp... ORPHA:2753
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta ane... OMIM:612474
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:620113
Classical Ehlers-Danlos Syndrome
Incisional hernia, Ecchymosis, Acrocyanosis, Prematurely aged appearance, Poor wound healing, Hia... ORPHA:287
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Aortic valve atresia, Coarctation of aort... OMIM:220111
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Renal hypoplasia, Scoliosis OMIM:612918
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... ORPHA:42775
Noonan Syndrome 2
Abnormal coronary artery origin, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, ... OMIM:605275
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ankle flexion contracture, Patent ductus arteriosus, Gait disturbance, Atte... ORPHA:464311
Bardet-Biedl Syndrome 1
Left ventricular hypertrophy OMIM:209900
Monosomy 9P
Hernia, Congenital diaphragmatic hernia ORPHA:261112
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... OMIM:259900
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
X Small Rings
Aortic root aneurysm, Mitral stenosis ORPHA:96201
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Gaisböck Syndrome
Plethora, Angina pectoris, Myocardial infarction, Dyspnea, Hypovolemia, Peripheral arterial steno... ORPHA:90041
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Contracture of the distal interphalangeal joint of the fingers, Inguinal he... ORPHA:83617
Iniencephaly
Omphalocele, Arthrogryposis multiplex congenita, Congenital diaphragmatic hernia ORPHA:63259
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Tricuspid regurgitation, Patent ductus arteriosus, Camptodactyly, Pulmonary artery a... OMIM:616894
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis ORPHA:79456
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Limb Body Wall Complex
Ventral hernia, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abno... ORPHA:2369
Peters Plus Syndrome
Inguinal hernia, Patent ductus arteriosus, Abnormal pulmonary vein morphology, Pulmonic stenosis,... ORPHA:709
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Mckusick-Kaufman Syndrome
Pulmonary hypoplasia OMIM:236700
Witteveen-Kolk Syndrome
Inguinal hernia, Eczema, Congenital diaphragmatic hernia, Contracture of the distal interphalange... OMIM:613406
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Facial palsy, Coarctation of aorta, Truncus arteriosus, Tetralogy of Fallot... ORPHA:508498
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Hyperactivity, Multiple joint contractures, Patent ductus arteriosus, Gait ... ORPHA:464306
Holzgreve Syndrome
Aplasia/Hypoplasia of the lungs ORPHA:2167
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Hunter-Macdonald Syndrome
Aortic regurgitation, Inguinal hernia, Patent ductus arteriosus, Hypertension, Mitral regurgitati... OMIM:611962
Fibromuscular Dysplasia, Multifocal
Tortuous cerebral arteries, Hiatus hernia, Vertebral artery tortuosity, Celiac artery dissection,... OMIM:619329
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Congestive heart failure, Patent ductus arteriosus, Asthma, Macroglossia, Aortic root aneurysm, A... ORPHA:444077
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Jaundice, Pulmonic stenosis, Hepatic failure, Tetralogy of Fallot OMIM:222470
Distal Deletion 12Q
Elbow flexion contracture, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Pa... ORPHA:96149
Fraser Syndrome
Omphalocele, Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia, Umbilical hernia ORPHA:2052
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Mitral valve calcification, Flexion contracture, Generalized lipodystrophy, Left ve... OMIM:619127
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepat... OMIM:610199
Poland Syndrome
Abnormality of the liver, Aplasia of the pectoralis major muscle, Absence of subcutaneous fat, Co... ORPHA:2911
C Syndrome
Omphalocele, Death in infancy, Aplasia/Hypoplasia of the abdominal wall musculature, Congenital d... ORPHA:1308
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic... OMIM:611881
Ethylmalonic Encephalopathy
Acrocyanosis, Ataxia, Petechiae ORPHA:51188
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Increased iduronate sulfatase level OMIM:252600
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation ORPHA:3301
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture, Difficulty walking, Weaknes... OMIM:617239
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Abnormality of the fascia, Dilatation of the ventricular cavity, Enthesitis... ORPHA:85438
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
1P36 Deletion Syndrome
Aortic arch aneurysm, Camptodactyly of finger, Patent ductus arteriosus, Dilated cardiomyopathy, ... ORPHA:1606
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Scheie Syndrome
Aortic regurgitation, Rhinitis ORPHA:93474
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Te... OMIM:305600
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Pulmonary artery sling, Inability to walk, Flexion contracture, Tetralogy of Fa... ORPHA:261537
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Chronic Visceral Acid Sphingomyelinase Deficiency
Respiratory failure requiring assisted ventilation, Ataxia, Progressive pulmonary function impair... ORPHA:77293
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Asplenia ORPHA:221120
Coffin-Siris Syndrome 4
Pulmonary artery atresia, Macroglossia, Patent ductus arteriosus, Pulmonic stenosis OMIM:614609
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Pulmonary artery sling, Inability to walk, Patent ductus arteriosus, Flexion co... ORPHA:261552
Chromosome 1P36 Deletion Syndrome, Distal
Noncompaction cardiomyopathy, Camptodactyly of finger, Aggressive behavior, Patent ductus arterio... OMIM:607872
Cutis Marmorata Telangiectatica Congenita
Telangiectasia of the skin, Cutis marmorata, Patent ductus arteriosus, Arterial stenosis, Arterio... ORPHA:1556
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal... OMIM:232220
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Biliary cirrhosis, Coarctatio... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Biliary cirrhosis, Coarctatio... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Biliary cirrhosis, Coarctatio... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Biliary cirrhosis, Coarctatio... ORPHA:881
Genitopatellar Syndrome
Hip contracture, Pulmonary hypoplasia, Dysphagia, Knee flexion contracture OMIM:606170
Penile Agenesis
Bilateral lung agenesis, Pulmonary hypoplasia ORPHA:49
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Hypoplastic aortic arch, Facial hypotonia ORPHA:457284
Craniofacial Microsomia 1
Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctation of aorta, Right aortic ar... OMIM:164210
Fraser Syndrome 1
Pulmonary hypoplasia OMIM:219000
Charge Syndrome
Aortic arch aneurysm, Facial palsy, Patent ductus arteriosus, Respiratory insufficiency, Interrup... ORPHA:138
Chilton-Okur-Chung Neurodevelopmental Syndrome
Epistaxis, Aplasia of the right hemidiaphragm, Patent ductus arteriosus, Asthma, Cephalohematoma,... OMIM:619841
Fucosidosis
Lipoatrophy, Decreased muscle mass, Acrocyanosis, Vascular skin abnormality ORPHA:349
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Diamond-Blackfan Anemia 21
Aortic regurgitation, Cutis marmorata OMIM:620072
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Hyperactivity, Inguinal hernia, Pulmonic stenosis, Attention deficit hypera... OMIM:607721
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Waddling gait, Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Camptodactyly of f... OMIM:143095
Cornelia De Lange Syndrome
Attention deficit hyperactivity disorder, Compulsive behaviors, Cutis marmorata, Congenital diaph... ORPHA:199
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Heart murmur, Respiratory insufficiency, Intracrani... ORPHA:163979
Au-Kline Syndrome
Hypertension, Aortic root aneurysm OMIM:616580
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Pitt-Hopkins Syndrome
Ataxia, Hiatus hernia, Aggressive behavior, Gait ataxia, Self-injurious behavior, Acrocyanosis, A... ORPHA:2896
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Broad-based gait, Inguinal hernia, Ataxia, Aggressive behavior, Gait distur... ORPHA:268261
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve stenosis OMIM:114065
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Inguinal hernia, Interrupted aortic arch ORPHA:250989
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Limb hypertonia OMIM:609460
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Inguinal hernia, Death in infancy, Camptodactyly of finger, Abn... ORPHA:1507
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Multiple Myeloma
Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Vertebral compression fracture, A... ORPHA:29073
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... OMIM:276700
Hydrolethalus Syndrome 1
Omphalocele, Stillbirth, Agenesis of the diaphragm, Abnormal lung lobation OMIM:236680
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele, Pulmonary hypoplasia, Respiratory insufficiency ORPHA:93271
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Retroperitoneal fibrosis, Abnormal mesentery ... ORPHA:449395
Osteogenesis Imperfecta, Type Vii
Death in infancy, Absent pulmonary artery, Dentinogenesis imperfecta, Hypoplastic pulmonary veins OMIM:610682
Primary Hyperoxaluria
Elevated hepatic transaminase, Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusi... ORPHA:416
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Neutropenia ORPHA:1667
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Ascending aorta hypoplasia, Flexion contracture, Knee flexion contracture, Diaphragmatic e... OMIM:619503
Grange Syndrome
Coronary artery stenosis, Renovascular hypertension, Renal artery stenosis, Carotid artery stenosis OMIM:602531
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia, Enthesitis OMIM:106300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... OMIM:301074
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Craniofacioskeletal Syndrome
Absent gallbladder, Patent ductus arteriosus, Interrupted aortic arch OMIM:300712
Feingold Syndrome Type 1
Patent ductus arteriosus, Tricuspid stenosis, Interrupted aortic arch ORPHA:391641
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Feingold Syndrome 1
Accessory spleen, Tricuspid stenosis, Asplenia, Patent ductus arteriosus, Polysplenia, Interrupte... OMIM:164280
Microphthalmia, Syndromic 2
Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch, Double outlet right ventr... OMIM:300166
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Tetralogy of Fallot, Coarctation of aorta OMIM:618748
Sitosterolemia 1
Increased circulating lactate dehydrogenase concentration, Coronary artery atherosclerosis, Carot... OMIM:210250
Microphthalmia, Syndromic 1
Aggressive behavior, Pulmonary hypoplasia, Camptodactyly, Joint contracture of the hand, Self-mut... OMIM:309800
Neurofibromatosis Type 1
Ataxia, Arterial stenosis, Hypertension, Multiple lipomas, Attention deficit hyperactivity disorder ORPHA:636
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta OMIM:617088
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Respiratory distress, Inguinal hernia, Patent ductus arteriosus, Hyp... ORPHA:508488
Fanconi Anemia
Patent ductus arteriosus, Abnormality of the liver, Abnormal carotid artery morphology, Abnormal ... ORPHA:84
Charge Syndrome
Omphalocele, Overriding aorta, Facial palsy, Patent ductus arteriosus, Right aortic arch, Pulmoni... OMIM:214800
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Lower-limb joint contracture, Tracheomalacia ORPHA:513456
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Cardiac conduction abnormality, Patent ductus arteri... ORPHA:353281
Otopalatodigital Syndrome, Type Ii
Omphalocele, Elbow contracture, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbil... OMIM:304120
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Coffin-Lowry Syndrome
Inguinal hernia, Cutis marmorata, Mitral regurgitation, Uterine prolapse, Acrocyanosis OMIM:303600
Kikuchi-Fujimoto Disease
Splenomegaly, Anemia, Leukopenia, Lymphocytosis, Neutropenia, Thrombocytopenia ORPHA:50918
Liver Disease, Severe Congenital
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Cholesteatoma, Anemia OMIM:619991

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lox

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lox.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Initiation of fibronectin fibrillogenesis is an enzyme-dependent process. Cell reports (May 2023) Loxl3tm1a(EUCOMM)Wtsi 37148241
Loxl2 and Loxl3 Paralogues Play Redundant Roles during Mouse Development. International journal of molecular sciences (May 2022) Loxl3tm1a(EUCOMM)Wtsi PMC9144032
Loxl3 Promotes Melanoma Progression and Dissemination Influencing Cell Plasticity and Survival. Cancers (February 2022) Loxl3tm1a(EUCOMM)Wtsi PMC8909883
Fibroblast fusion to the muscle fiber regulates myotendinous junction formation. Nature communications (June 2021) Loxl3tm1a(EUCOMM)Wtsi PMC8219707
Update on Animal Models of Exfoliation Syndrome. Journal of glaucoma (July 2018) Loxl1tm1(KOMP)Vlcg Loxl1tm1.1(KOMP)Vlcg 29419647
Lysyl Oxidase-Like 1 Protein Deficiency Protects Mice from Adenoviral Transforming Growth Factor-β1-induced Pulmonary Fibrosis. American journal of respiratory cell and molecular biology (April 2018) Loxl1tm1.1(KOMP)Vlcg 29115860
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program. PloS one (July 2017) Loxl1tm1.1(KOMP)Vlcg PMC5503261

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Loxtm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Loxem1(IMPC)Mbp Exon Deletion Mice

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