Gene Summary

Name:
atypical chemokine receptor 3
Synonyms:
Rdc1,  Cxcr7,  Cmkor1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Ackr3tm2b(EUCOMM)Wtsi HOM   Early adult 0.00
decreased grip strength Ackr3tm2b(EUCOMM)Wtsi HET Early adult 2.09×10-06
decreased total retina thickness Ackr3tm2b(EUCOMM)Wtsi HET   Early adult 2.16×10-05
increased mean corpuscular hemoglobin concentration Ackr3tm2b(EUCOMM)Wtsi HET Early adult 1.60×10-05
tremors Ackr3tm2b(EUCOMM)Wtsi HET   Early adult 7.93×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Ackr3 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 Ackr3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oculomotor-Abducens Synkinesis
OMIM:619215

The table below shows human diseases predicted to be associated to Ackr3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3
Reduced forced expiratory volume in one second, Usual interstitial pneumonia, Reduced forced vita... OMIM:616373
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Optic Atrophy 2
Babinski sign, Tremor, Optic atrophy, Dysdiadochokinesis OMIM:311050
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4
Honeycomb lung, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Co... OMIM:616371
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Pulmonic Stenosis And Deafness
Pulmonic stenosis, Ventricular hypertrophy OMIM:178651
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Coronary Arterial Fistula
Tachypnea, Coronary artery aneurysm, Cardiomegaly, Patent foramen ovale, Abnormal left ventricula... ORPHA:2041
Ventricular Septal Defect 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614429
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Ethanolaminosis
Cardiomegaly, Death in infancy OMIM:227150
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Atrial Septal Defect 2
Atrial septal defect, Ventricular septal defect, Atrioventricular canal defect OMIM:607941
Hypersensitivity Pneumonitis, Familial
Hypersensitivity pneumonitis OMIM:145300
Diamond-Blackfan Anemia 16
Atrial septal defect, Pulmonic stenosis OMIM:617408
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Congenital Gerbode Defect
Right atrial enlargement, Left-to-right shunt, Crackles, Ventricular septal defect, Holosystolic ... ORPHA:99095
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency ORPHA:2111
Subaortic Stenosis, Membranous
Subvalvular aortic stenosis OMIM:271950
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Congenital Pulmonary Lymphangiectasia
Cyanosis, Congestive heart failure, Splenomegaly, Pleural effusion, Pulmonic stenosis, Cough, Pul... ORPHA:2414
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Tachypnea, Ventric... ORPHA:860
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Pneumonia, Recurrent skin infectio... OMIM:613953
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Hepatomegaly, Pulmonic stenosis, Restrictive cardiomyopathy, Death in in... OMIM:619433
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Criss-Cross Heart
Cyanosis, Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pu... ORPHA:1461
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hy... ORPHA:1209
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Storm Syndrome
Myxomatous mitral valve degeneration, Aortic valve stenosis, Mitral stenosis, Early progressive c... OMIM:185069
Congenital Aortic Valve Stenosis
Abnormal T-wave, Aortic valve atresia, Reduced ejection fraction, Endocardial fibroelastosis, Dys... ORPHA:3093
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Asthma OMIM:614262
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus OMIM:125520
Pulmonary Hemosiderosis
Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis OMIM:178550
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Aspiration pneumonia, Scapular winging, ... OMIM:619477
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Episodic Ataxia, Type 1
Incoordination, Spastic gait, Babinski sign, Episodic ataxia, Slurred speech, Tremor OMIM:160120
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Patent ductus arteriosus after birth at t... OMIM:618782
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Ataxia, Slurred speech, Tremor OMIM:613227
Pulmonic Stenosis
Pulmonic stenosis OMIM:265500
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Pulmonic stenosis, Mitral valve prolapse, Tricuspid ... ORPHA:228410
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Pulmonic stenosis, Retinal arterial macroaneurysms OMIM:614224
Parkinson Disease 24, Autosomal Dominant, Susceptibility To
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor OMIM:619491
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Abnormal heart valve morphology, Pulmonic stenosis OMIM:126190
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Tremor, Hereditary Essential, 6
Kinetic tremor, Head tremor, Vocal tremor, Postural tremor OMIM:618866
Tremor, Hereditary Essential, 5
Kinetic tremor, Postural tremor, Tongue tremor, Intention tremor OMIM:616736
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Situs inversus totalis, Pulmonic sten... OMIM:615415
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Dextrocardia, Double outlet right ventricle... OMIM:618254
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Isolated Right Ventricular Hypoplasia
Cyanosis, Right atrial enlargement, Hypoxemia, Patent foramen ovale, Congestive heart failure, At... ORPHA:439
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Weill-Marchesani Syndrome
Mitral regurgitation, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse ORPHA:2868
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Wheezing, Abnormal pulmonary interstitial morphology, Pulmo... ORPHA:2302
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Left ventricular noncompaction, Ventricula... OMIM:613426
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis OMIM:114065
Laubry-Pezzi Syndrome
Patent foramen ovale, Abnormal aortic valve cusp morphology, Congestive heart failure, Aortic reg... ORPHA:99094
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Familial Hypertrophic, 15
Dyspnea, Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Primary Dystonia, Dyt27 Type
Action tremor, Focal dystonia, Axial dystonia, Limb dystonia, Laryngeal dystonia, Upper limb post... ORPHA:464440
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Coarctation of aorta, Hypoplastic left heart, ... ORPHA:402075
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Cutis marmorata, Aortic regurgitation, Patent ductus ar... ORPHA:229
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Overriding aorta, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:3304
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Spinocerebellar Ataxia Type 15/16
Action tremor, Head tremor, Ataxia, Gait ataxia, Tremor by anatomical site, Upper limb postural t... ORPHA:98769
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Calcification of the aorta, Mitral stenosis, Mitral val... OMIM:231005
Attrv122I Amyloidosis
Reduced ejection fraction, Arrhythmia, Congestive heart failure, Angina pectoris, Abnormal EKG, C... ORPHA:85451
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Abnormal heart morphology OMIM:617744
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Cardiac Diverticulum
Tricuspid atresia, Premature ventricular contraction, Pulmonary artery hypoplasia, Dextrocardia, ... ORPHA:1686
Primary Dystonia, Dyt13 Type
Torsion dystonia, Action tremor, Dystonia, Focal dystonia, Motor stereotypy, Generalized dystonia... ORPHA:98807
Noonan Syndrome 11
Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5
Pulmonary fibrosis OMIM:618674
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:615451
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Scheie Syndrome
Obstructive sleep apnea, Aortic valve stenosis, Aortic regurgitation OMIM:607016
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Dyspnea, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular c... OMIM:610476
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Dystonia 27
Action tremor, Laryngeal dystonia, Postural tremor, Writer's cramp, Oromandibular dystonia OMIM:616411
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Neutropenia, B lymphocytopenia, Absent... OMIM:619705
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs i... OMIM:612444
Episodic Ataxia With Slurred Speech
Gait ataxia, Slurred speech, Tremor ORPHA:401953
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Dystonia, Myoclonus, Tremor OMIM:611092
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Mitral atresia, Ventricular septal defect, Bicusp... OMIM:109730
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Heart Defects-Limb Shortening Syndrome
Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Abno... ORPHA:1354
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia OMIM:614435
Aortic Arch Interruption
Tachypnea, Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertensi... ORPHA:2299
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclo... OMIM:314250
Double Outlet Right Ventricle
Cyanosis, Tetralogy of Fallot, Tachypnea, Double outlet right ventricle, Pulmonic stenosis, Coarc... ORPHA:3426
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus OMIM:615297
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Situs inversus totalis, Bronchiectasis, Cil... OMIM:608644
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Mitral regurgitation, Cardiomegaly, Arrhy... ORPHA:363705
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Abnormal breath sound, Crackles, Abnormal pleura morphology, Coug... ORPHA:210136
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Bacterial endocarditis, Jaundice, Exertional dyspnea, D... ORPHA:615
Congenital Tricuspid Valve Dysplasia
Cyanosis, Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Respiratory fail... ORPHA:555874
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Glutathionuria
Tremor OMIM:231950
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Pulmonic stenosis OMIM:264140
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Respiratory failure requiring assisted ventila... ORPHA:70589
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Rhizomelic Syndrome
Pulmonic stenosis OMIM:268250
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusi... OMIM:300991
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure, Tachypnea, Cough, Respiratory distress, Cor pulmonale OMIM:263000
Mcdonough Syndrome
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis OMIM:248950
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Secundum atrial septal defect, Pulmonic stenosis OMIM:178650
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Complete Atrioventricular Septal Defect
Left-to-right shunt, Tachypnea, Crackles, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Atrial Septal Defect, Coronary Sinus Type
Right atrial enlargement, Left-to-right shunt, Bundle branch block, Increased pulmonary vascular ... ORPHA:99104
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Spastic paraplegia, Tremor OMIM:309560
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Abnormal respiratory system physiology, Tachypnea, Right bundle branch ... ORPHA:99106
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC rat... OMIM:611884
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... ORPHA:210122
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect, Death in childhood OMIM:253300
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Optic disc pallor, Optic atrophy, Tremor OMIM:165300
Mungan Syndrome
Perimembranous ventricular septal defect, Tricuspid regurgitation, Pulmonic stenosis OMIM:611376
Atrial Septal Defect, Ostium Secundum Type
Right atrial enlargement, Abnormal mitral valve morphology, Left-to-right shunt, Bundle branch bl... ORPHA:99103
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Spinocerebellar Ataxia 20
Abnormal pyramidal sign, Action tremor, Palatal myoclonus, Gait ataxia, Limb ataxia, Postural tremor OMIM:608687
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Coarctation of aorta, Pulmonic stenosis OMIM:614300
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Crescentic glome... OMIM:616414
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect OMIM:212090
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:605407
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Vascular ring, ... OMIM:601927
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pulmonic stenosis, Obstructive sleep apnea, Transposition of the great arteries, Perimembranous v... OMIM:617877
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect, Patent ductus arteriosus OMIM:614432
Branchial Arch Syndrome, X-Linked
Pulmonic stenosis OMIM:301950
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormal pyramidal sign, Dystonia, Ataxia, Spasticity, Hemiplegia, Abnormality of extrapyramidal ... OMIM:614561
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Left superior vena cava draining directly to the left atrium, Portal i... OMIM:613759
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Ventricular septal defect, Hypoplastic right heart OMIM:601348
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect, Neutropenia, Lymphopenia OMIM:614868
Von Willebrand Disease, Type 1
Bruising susceptibility, Gastrointestinal hemorrhage, Mitral valve prolapse, Joint hemorrhage, Ao... OMIM:193400
Autosomal Recessive Spastic Paraplegia Type 70
Abnormal pulmonary interstitial morphology ORPHA:401835
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Mitral valv... ORPHA:324410
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Abnormal pattern of respira... OMIM:619149
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Obstructiv... OMIM:609008
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatosplenomegaly, Reticular pattern on pulmonary HRCT, Diffuse ... ORPHA:99931
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:615355
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Ataxia, Tremor OMIM:213000
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Right atrial enlargement, Dilated cardiomyopathy, Biventricular hypertrophy, Left ventricular non... OMIM:619424
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive ventilatory defect, Hypo... OMIM:610978
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis OMIM:226990
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Recurrent otitis media, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Patent foramen ovale, Atrial septal defect, Double outlet right ventricle, Abno... ORPHA:477817
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Abnormal left ventricular function, Hype... ORPHA:75249
Ciliary Dyskinesia, Primary, 25
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:615482
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Riddle Syndrome
Pulmonary fibrosis OMIM:611943
Acquired Von Willebrand Syndrome
Bruising susceptibility, Gastrointestinal hemorrhage, Aortic regurgitation, Subcutaneous hemorrha... ORPHA:99147
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Dystonia, Ataxia, Chorea, Torticollis, Hyperkinetic movements, Tremor OMIM:618425
Parkinsonism With Spasticity, X-Linked
Parkinsonism, Resting tremor, Bradykinesia, Cogwheel rigidity, Spasticity, Babinski sign OMIM:300911
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Hypercalcemia, Infantile, 1
Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Peroxisome Biogenesis Disorder 8A (Zellweger)
Epiphyseal stippling, Hepatomegaly, Jaundice, Ventricular septal defect, Death in infancy OMIM:614876
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Alkaptonuria
Aortic valve calcification, Aortic aneurysm, Coronary artery calcification, Mitral valve calcific... OMIM:203500
Absence Of The Pulmonary Artery
Atrial fibrillation, Cardiomegaly, Cyanosis, Recurrent pneumonia, Patent foramen ovale, Patent du... ORPHA:980
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Erysipelas, Pulmonary fibrosis, Skeletal muscle atrophy OMIM:615704
Gaucher Disease, Type I
Splenomegaly, Hepatomegaly, Dyspnea, Pulmonary arterial hypertension, Hypertension, Mitral regurg... OMIM:230800
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation, Hepatomegaly ORPHA:422
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Bic... ORPHA:284169
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Abnormal left... OMIM:132900
Neuronopathy, Distal Hereditary Motor, Type Viia
Vocal cord paresis, Vocal cord paralysis, Tremor OMIM:158580
Alkaptonuria
Abnormal heart valve morphology, Mitral valve calcification, Atherosclerosis, Intervertebral disk... ORPHA:56
White Forelock With Malformations
Atrial septal defect, Prominent veins on trunk OMIM:277740
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Crackles, Usual interstitial pneumonia, Cough, Dyspnea, Obst... OMIM:614742
8p23.1 deletion syndrome
Atrial septal defect, Abnormal heart morphology, Atrioventricular canal defect DECIPHER:39
Lmna-Related Cardiocutaneous Progeria Syndrome
Premature graying of hair, Emphysema, Mitral regurgitation, Congestive heart failure, Aortic root... ORPHA:363618
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Spasticity, Ataxia, Tremor OMIM:614307
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, Respiratory distress OMIM:300580
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Retinal Dystrophy With Or Without Extraocular Anomalies
Pulmonary fibrosis OMIM:617175
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Atrial septal defect, Pulmonic stenosis OMIM:619239
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Recurrent bronchitis OMIM:312863
Gaucher Disease Type 3
Abnormal myocardium morphology, Pancytopenia, Abnormal heart valve morphology, Splenomegaly, Hepa... ORPHA:77261
Immunodeficiency 48
Eczematoid dermatitis, Pneumonia, Hepatomegaly, Splenomegaly OMIM:269840
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Double outlet right ventricl... OMIM:179613
Spinocerebellar Ataxia 43
Ataxia, Gait ataxia, Rigidity, Limb ataxia, Tremor OMIM:617018
Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinsonism, Dystonia, Bradykinesia, Lower limb spasticity, Rigidity, Scissor gait, Abnormality ... OMIM:260300
Catel-Manzke Syndrome
Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect OMIM:616145
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Frequent falls, Chorea, Hyperkinetic movements, Tremor OMIM:616921
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Abnormality on pulmonary function testing, As... ORPHA:1163
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Biventricular hypertrophy, Neonatal respiratory distress OMIM:250951
Nasodigitoacoustic syndrome
Pulmonic stenosis OMIM:255980
Chromosome 6Q24-Q25 Deletion Syndrome
Right ventricular dilatation, Patent ductus arteriosus, Atrial septal defect, Dysplastic tricuspi... OMIM:612863
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Ataxia, Tremor OMIM:611105
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Progeroid facial appearance, Pulmonic stenosis ORPHA:75496
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor OMIM:610297
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, ... ORPHA:444013
Frontoocular Syndrome
Atrial septal defect, Pulmonic stenosis OMIM:605321
Arterial Tortuosity Syndrome
Bruising susceptibility, Aortic regurgitation, Generalized arterial tortuosity, Telangiectases of... OMIM:208050
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial fibrillation, Cardiomegaly, Holosystolic murmur, Arrhythmia, Com... ORPHA:1677
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Coarctation of aorta, Neonatal death, Respiratory insufficiency, Abnorm... OMIM:601612
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections... OMIM:617092
Noonan Syndrome 9
Coarctation of aorta, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Tru... OMIM:609029
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Congenital Laryngeal Web
Stridor, Respiratory distress, Abnormal cardiac septum morphology ORPHA:2374
Felty Syndrome
Sinusitis, Recurrent pneumonia, Splenomegaly, Hepatomegaly, Episcleritis, Recurrent respiratory i... ORPHA:47612
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Congestive heart failure, Heart murmur, Ab... ORPHA:3400
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Hypertrophic cardiomyopathy, Right bundle branch block,... OMIM:115197
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Abnormal pyramidal sign, Frequent falls, Parkinsonism, Focal dystonia, Oromandibular... ORPHA:216873
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Left ventricular hypertrophy ORPHA:217607
Spinocerebellar Ataxia Type 20
Kinetic tremor, Abnormal pyramidal sign, Isometric tremor, Intention tremor, Bradykinesia, Ataxia... ORPHA:101110
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Tyshchenko Syndrome
Atrial septal defect, Sleep apnea, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Atrial septal defect, Laryngotracheomalacia, Hypoplastic left heart, Mitral stenosis, Aortic valv... OMIM:617660
Rigid Spine Syndrome
Pneumonia, Abnormality on pulmonary function testing, Skeletal muscle atrophy, Respiratory insuff... ORPHA:97244
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Mend Syndrome
Aortic valve stenosis OMIM:300960
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Frequent falls, Dystonia, Myoclonus, Tremor OMIM:619647
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Dextrocardia, Double outlet right ventricle, Hypoplastic... OMIM:306955
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recur... OMIM:614679
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Parkinsonism, Dystonia, Ataxia, Upper motor neuron dysfunction, Rigidity, Chorea, Myoclonus, Tremor ORPHA:401901
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Paralysis Agitans, Juvenile, Of Hunt
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:168100
Spinocerebellar Ataxia 7
Dysmetria, Progressive cerebellar ataxia, Pigmentary retinopathy, Spasticity, Macular degeneratio... OMIM:164500
Alagille Syndrome 2
Tetralogy of Fallot, Atrial septal defect, Peripheral pulmonary artery stenosis, Pulmonic stenosi... OMIM:610205
Limited Cutaneous Systemic Sclerosis
Pulmonary fibrosis, Pulmonary arterial hypertension, Contractures involving the joints of the fee... ORPHA:220402
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Pa... OMIM:617478
Developmental And Epileptic Encephalopathy 32
Ataxia, Myoclonus, Tremor OMIM:616366
Atrioventricular Septal Defect 3
Cyanosis, Midsystolic murmur, Congestive heart failure, First degree atrioventricular block, Pulm... OMIM:600309
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary... OMIM:616749
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Tetralogy of Fallot, Situs inversus totalis OMIM:601322
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Abnormal pulmonary valve morphology, Pulmonic stenosis ORPHA:137634
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect OMIM:617044
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney, Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural in... ORPHA:79128
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Dyspnea, Atrial fibrillation, Mitral regurgitation, Left atrial enlarge... OMIM:617047
Spinocerebellar Ataxia Type 31
Gait ataxia, Spasticity, Tremor ORPHA:217012
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Colitis, Bronchiectasis, Pulmonary fibrosis, Recurrent sinopulmonary infections,... OMIM:618394
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Dysmetria, Sideroblastic anemia, Intention tremor, Clonus, Nonprogressive cerebellar ataxia, Dysd... OMIM:301310
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Bruising susceptibility, Cutis marmo... ORPHA:91387
Antisynthetase Syndrome
Myositis, Myocarditis, Cough, Pulmonary arterial hypertension, Recurrent respiratory infections, ... ORPHA:81
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Reduced vital capacity, Respiratory insufficiency, Congestive heart failure OMIM:618654
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... OMIM:607688
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Hypoxemia, Bacterial endocarditis, Pulmonary hemorrhage, Myocardial infarcti... ORPHA:2038
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Serkal Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:139466
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Spinocerebellar Ataxia, Autosomal Recessive 4
Frequent falls, Dystonia, Fasciculations, Ataxia, Gait ataxia, Spasticity, Babinski sign, Myoclon... OMIM:607317
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Frequent falls, Chorea, Tremor ORPHA:494526
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotransposition of ... OMIM:619657
Immunodeficiency 104
Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media OMIM:608971
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Spinocerebellar Ataxia 37
Frequent falls, Ataxia, Tremor OMIM:615945
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Geleophysic Dysplasia 2
Tricuspid stenosis, Hepatomegaly, Mitral valve prolapse, Pulmonary arterial hypertension, Mitral ... OMIM:614185
Leukoencephalopathy with metaphyseal chondrodysplasia
Babinski sign, Spastic paraplegia, Tremor OMIM:300660
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Aicardi-Goutieres Syndrome 6
Rigidity, Dystonia, Hemolytic anemia, Tremor OMIM:615010
Ciliary Dyskinesia, Primary, 38
Cough, Dextrocardia, Situs inversus totalis, Bronchiectasis, Rhinitis, Chronic otitis media, Neon... OMIM:618063
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Dyspnea, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myo... OMIM:613873
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Atrial fibrillation... ORPHA:99105
Spastic Ataxia 2, Autosomal Recessive
Frequent falls, Dysmetria, Fasciculations, Gait ataxia, Spasticity, Head titubation, Babinski sig... OMIM:611302
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Dysmetria, Tremor, Poor coordination, Spasticity, Clumsiness, Babinski sign, Spastic ataxia, Opti... OMIM:270500
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Situs inversus totalis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis medi... OMIM:614017
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Dystonia, Dopa-Responsive
Incoordination, Dystonia, Resting tremor, Bradykinesia, Cogwheel rigidity, Gait ataxia, Postural ... OMIM:128230
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular dilatation, Abnormal atrioventricular valve morphology,... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Spastic Paraparesis And Deafness
Spastic paraparesis, Tremor OMIM:312910
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Atrial septal defect, Left-to-right shunt, Muscular ventricular septal ... ORPHA:363444
Polymyositis
Dilated cardiomyopathy, Arthritis, Abnormal mitral valve morphology, Hypertrophic cardiomyopathy,... ORPHA:732
Tremor, Hereditary Essential, 2
Kinetic tremor, Upper limb postural tremor OMIM:602134
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Bardet-Biedl Syndrome 2
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve OMIM:615981
Cystic Fibrosis
Recurrent respiratory infections, Pulmonary fibrosis ORPHA:586
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor OMIM:611808
Hypophosphatemic Rickets, Autosomal Recessive, 2
Pulmonic stenosis OMIM:613312
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus OMIM:300049
Epilepsy, Progressive Myoclonic 7
Ataxia, Myoclonus, Tremor OMIM:616187
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Chromosome 1P36 Deletion Syndrome, Proximal
Complete atrioventricular canal defect, Dilated cardiomyopathy, Patent foramen ovale, Patent duct... OMIM:619343
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent pneumonia, Recurrent otitis media, Lymphadenitis, Chronic bronchitis, Bronchiectasis, R... OMIM:618986
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:616564
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Pulmonary fibrosis, Secundum atrial septal defect OMIM:611926
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Meckel Syndrome, Type 7
Portal hypertension, Hepatosplenomegaly, Patent ductus arteriosus, Atrial septal defect, Situs in... OMIM:267010
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Respiratory failure, Muscular ventricular septal defect OMIM:618804
Parkinson Disease 19A, Juvenile-Onset
Abnormal pyramidal sign, Parkinsonism, Dystonia, Bradykinesia, Rigidity, Spasticity, Tremor OMIM:615528
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Aortic regurgit... OMIM:619698
Glutathione Synthetase Deficiency
Spastic tetraparesis, Intention tremor, Ataxia, Neutropenia, Pigmentary retinopathy, Hemolytic an... OMIM:266130
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pu... OMIM:612541
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Congestive heart failure, Dysplastic aortic valve, Atrial septal defect... OMIM:601808
Mixed Connective Tissue Disease
Pleuritis, Myositis, Gastritis, Myocarditis, Splenomegaly, Hepatomegaly, Dyspnea, Pulmonary arter... ORPHA:809
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus OMIM:243310
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Sleep apnea, Aortic valve stenosis ORPHA:459061
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal cardiovascular system physiology, Pleural effusi... ORPHA:50251
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Cutis marmorata, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial... OMIM:100300
Microphthalmia, Syndromic 9
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Coarctati... OMIM:601186
Immunodeficiency 13
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent otitis media, Bronch... OMIM:615518
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Respiratory distress ORPHA:26792
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Ventricular septal defect, Truncus arteriosus, Neonatal death, Respiratory i... OMIM:228940
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT inte... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Pulmonary Capillary Hemangiomatosis
Cyanosis, Diffuse alveolar hemorrhage, Hypoxemia, Abnormal pulmonary vein morphology, Pleural eff... ORPHA:199241
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Dyspnea, Recurrent respiratory infections, Decreased DLCO, Abnormal p... OMIM:607616
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... ORPHA:99125
Gaucher Disease
Abnormal myocardium morphology, Pancytopenia, Cherry red spot of the macula, Abnormal heart valve... ORPHA:355
Primary Pulmonary Hypoplasia
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Asthma, Abnormal breath sound, Tachypnea, De... ORPHA:2257
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Glut1 Deficiency Syndrome 2
Dystonia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor OMIM:612126
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Cough, Situs inversus totalis, B... OMIM:613808
Meacham Syndrome
Tetralogy of Fallot, Accessory spleen, Patent ductus arteriosus, Atrial septal defect, Scimitar a... OMIM:608978
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Cough, Pulmonic stenosis, Ventricular septal defe... ORPHA:96170
Kagami-Ogata Syndrome
Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic stenosis, Pu... OMIM:608149
Pitt-Hopkins-Like Syndrome 2
Hyperventilation, Pulmonic stenosis OMIM:614325
Spinocerebellar Ataxia, X-Linked 5
Action tremor, Ataxia OMIM:300703
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Myoclonus, Tremor OMIM:159900
Noonan Syndrome 5
Atrial septal defect, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis OMIM:611553
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Dystonia 13, Torsion, Autosomal Dominant
Torsion dystonia, Blepharospasm, Tremor, Limb dystonia, Torticollis, Writer's cramp, Oromandibula... OMIM:607671
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Bi... OMIM:613355
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, In... ORPHA:90060
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Hepatic fibrosis, Ventricular septal defect ORPHA:306550
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Death in childhood, Pulmonary arterial hypertension, Cardiomegaly, Death in infancy OMIM:619064
Leukoencephalopathy, Progressive, With Ovarian Failure
Dystonia, Apraxia, Ataxia, Spasticity, Tremor OMIM:615889
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect OMIM:616277
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Biventricular hypertrophy, Left anterior fascicular block, Hypertrophic... OMIM:613243
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Dystonia, Bradykinesia, Rigidity, Tremor OMIM:600116
Heart Defects, Congenital, And Other Congenital Anomalies
Tetralogy of Fallot, Patent foramen ovale, Double outlet left ventricle, Hypoplastic tricuspid va... OMIM:600001
Primary Dystonia, Dyt2 Type
Torsion dystonia, Generalized dystonia, Blepharospasm, Involuntary movements, Limb dystonia, Tort... ORPHA:99657
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Shortened PR interval, Congestive heart failure, Biventricular hypertrophy, Hypotension... OMIM:261740
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pulmonary fibrosis OMIM:614743
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Cardiomegaly, Tricuspid regurgitation, Prolonged QT interval OMIM:618052
Cardiofaciocutaneous Syndrome 4
Ventricular septal hypertrophy, Abnormal aortic valve morphology, Pulmonic stenosis OMIM:615280
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Situs inversus totalis, Recurrent bronchitis, Bronchiecta... OMIM:613193
Rhizomelic Syndrome, Urbach Type
Pulmonic stenosis ORPHA:3098
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Dilated cardiomyopathy, Aortic regurgitation, Pulmonary insufficiency, Congestive heart... ORPHA:2326
Immune-Mediated Necrotizing Myopathy
Myositis, Skeletal muscle atrophy, Muscle fiber necrosis, Proximal muscle weakness in lower limbs... ORPHA:206569
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor OMIM:612437
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior ve... OMIM:614954
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Congestive heart failure, Left-to-right shunt,... ORPHA:1600
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Arrhythmia, Abnormal mitral... ORPHA:500
Behr Syndrome
Dysmetria, Ataxia, Progressive spasticity, Babinski sign, Optic atrophy, Tremor OMIM:210000
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:610773
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Primary Ciliary Dyskinesia
Recurrent otitis media, Double outlet right ventricle, Productive cough, Recurrent sinopulmonary ... ORPHA:244
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Aortic valve... ORPHA:96147
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failur... ORPHA:70474
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Mucopolysaccharidosis, Type Ivb
Intimal thickening in the coronary arteries, Restrictive ventilatory defect, Aortic valve stenosi... OMIM:253010
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cholelithiasis, Hepatosplenomegaly, Bacterial endocarditis, Splenomegaly, Varicose ... ORPHA:2072
Spinocerebellar Ataxia Type 38
Gait ataxia, Tremor ORPHA:423296
Immunodeficiency 62
Bronchiectasis OMIM:618459
Adult Neuronal Ceroid Lipofuscinosis
Abnormal pyramidal sign, Ataxia, Spasticity, Clumsiness, Abnormality of extrapyramidal motor func... ORPHA:79262
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Dyspnea OMIM:606842
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Atrial Septal Defect 8
Atrial septal defect, Anomalous pulmonary venous return OMIM:614433
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Shor... OMIM:314400
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Noonan Syndrome 2
Patent ductus arteriosus, Atrial septal defect, Palmoplantar cutis laxa, Hypertrophic cardiomyopa... OMIM:605275
Neuroectodermal Melanolysosomal Disease
Hypertonia, Abnormality of the optic nerve, Aplasia/Hypoplasia of the macula, Macular dystrophy, ... ORPHA:33445
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Sneddon Syndrome
Livedo, Cutis marmorata, Livedo racemosa, Hypertension, Bicuspid aortic valve, Cerebral hemorrhag... OMIM:182410
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta, Anemia... ORPHA:101028
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sple... OMIM:618935
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Pleural thickening, Hypoxemia, Oxygen desatu... ORPHA:60025
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Hypoxemia, Patent ductus arteriosus, Atrial septal defect, Neonatal respirat... ORPHA:2847
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Hypertension, Respiratory distress OMIM:616733
Gaucher Disease Type 2
Cardiac arrest, Splenomegaly, Abnormal pattern of respiration, Cough, Hepatomegaly, Respiratory d... ORPHA:77260
Spinocerebellar Ataxia Type 12
Abnormal pyramidal sign, Action tremor, Parkinsonism, Intention tremor, Bradykinesia, Ataxia, Tre... ORPHA:98762
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Coarctation of ... ORPHA:1120
Migraine, Familial Hemiplegic, 1
Ataxia, Hemiplegia, Hemiparesis, Tremor OMIM:141500
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Tremor OMIM:615362
Infant Acute Respiratory Distress Syndrome
Cyanosis, Cardiac arrest, Hypoxemia, Pneumonia, Tachypnea, Hypotension, Respiratory failure, Atel... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Respiratory failure, Tachypnea, Neonatal death, Dyspnea, Pulmonary arterial hypertensio... OMIM:265120
Autosomal Dominant Spastic Ataxia Type 1
Hypertonia, Spastic gait, Dystonia, Spastic dysarthria, Spastic paraplegia, Lower limb spasticity... ORPHA:251282
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome