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Gene: Rxra MGI:98214

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

retinoid X receptor alpha

Synonyms:

9530071D11Rik, RXR alpha 1, RXRalpha1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rxra 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.

Human diseases associated with Rxra (0 diseases)
Human diseases predicted to be associated with Rxra (2422 diseases)

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

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

Disease	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ...	ORPHA:185
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Pulmonary Atresia With Intact Ventricular Septum	Pulmonary artery atresia, Hypoplastic right heart	OMIM:265150
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Pulmonary Atresia-Intact Ventricular Septum Syndrome	Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology	ORPHA:1208
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Supravalvular Aortic Stenosis	Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ...	OMIM:185500
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu...	ORPHA:2041
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur...	ORPHA:60041
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Abnormality of the liver, Bacterial ...	ORPHA:97214
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, P...	ORPHA:422
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,...	OMIM:614022
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619048
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Candidiasis, Familial, 1	Alopecia, Cutaneous anergy	OMIM:114580
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular...	OMIM:601419
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr...	OMIM:618920
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arterie...	OMIM:306955
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi...	ORPHA:1354
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail...	ORPHA:1880
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Atrioventricular Septal Defect 5	Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart	OMIM:614474
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art...	OMIM:620025
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc...	OMIM:601005
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Sup...	OMIM:618164
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl...	OMIM:617336
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl...	OMIM:618782
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ...	OMIM:615616
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiac arrest, Rhabdomyoly...	OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Loeffler Endocarditis	Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit...	ORPHA:75566
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Heart block, Splenomegaly, Di...	ORPHA:398124
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria...	OMIM:616201
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m...	ORPHA:615
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Endocardial Fibroelastosis	Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis	ORPHA:2022
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Cardiomyopathy, Familial Hypertrophic, 28	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en...	OMIM:619402
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ...	ORPHA:99125
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar...	OMIM:616564
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect, Arterial rupture, Dermal translucency	OMIM:619115
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Abnormal lung lobation, Abnormal aortic morphology, Webbed neck, Trunc...	ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypertrophic cardiomyo...	OMIM:618815
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology	ORPHA:1479
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va...	OMIM:618654
Winchester Syndrome	Kyphosis, Corneal opacity, Hirsutism	OMIM:277950
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent...	OMIM:618845
Odonto-Onycho Dysplasia-Alopecia Syndrome	Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Sparse hair, Spar...	ORPHA:2722
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Webbed neck	OMIM:601355
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Gaucher Disease, Type Iiic	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,...	OMIM:231005
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys...	OMIM:601705
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ...	ORPHA:3426
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Hemochromatosis, Type 2A	Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cir...	OMIM:602390
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur...	ORPHA:49827
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Cirrhotic Cardiomyopathy	Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Hepatomegaly, Elevated pulmo...	ORPHA:57777
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat...	OMIM:613313
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va...	OMIM:224700
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ...	OMIM:618234
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu...	OMIM:612863
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Atrial septal defect, Mitral stenosis, Hypoplastic left heart, Aortic valve stenosis	OMIM:617660
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Edema, Pulmonary emb...	ORPHA:90308
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle ...	ORPHA:369840
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Intellectual Developmental Disorder, Autosomal Recessive 47	Mitral valve prolapse	OMIM:616193
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Lef...	ORPHA:75249
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the...	OMIM:620236
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Combined Oxidative Phosphorylation Deficiency 17	Congestive heart failure, Hypertrophic cardiomyopathy	OMIM:615440
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri...	OMIM:605275
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Wild Type Attr Amyloidosis	Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i...	ORPHA:330001
Geleophysic Dysplasia 2	Tricuspid stenosis, Mitral valve prolapse, Mitral regurgitation, Aortic valve stenosis, Pulmonary...	OMIM:614185
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction	OMIM:615917
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Atrial Septal Defect 6	Atrial septal defect, Atrial fibrillation, Bradycardia	OMIM:613087
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology, Corneal opacity	ORPHA:351
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Coarctation of aorta, Atrial...	ORPHA:2008
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Pleural effusion, Bradycardia, Hypertrophic cardiomyopathy, A...	OMIM:614702
Alagille Syndrome 2	Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ...	OMIM:610205
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges...	OMIM:212140
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno...	OMIM:614609
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Congenital diaphragmatic hernia, Double outlet right ventr...	ORPHA:1596
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia	ORPHA:140952
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Sudden card...	ORPHA:98853
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e...	OMIM:540000
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Dk1-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ...	ORPHA:91131
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S...	OMIM:314400
Mitral Valve Prolapse 3	Mitral regurgitation, Mitral valve prolapse	OMIM:610840
Mitral Valve Prolapse 2	Mitral regurgitation, Mitral valve prolapse	OMIM:607829
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac...	OMIM:252011
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Congestive heart failure, Stroke-like epis...	ORPHA:70472
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi...	OMIM:607624
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Tietz Syndrome	Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham...	ORPHA:42665
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis	OMIM:620086
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Patent...	OMIM:601186
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp...	OMIM:617506
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart fail...	ORPHA:1194
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Ascites	OMIM:269920
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C...	ORPHA:2414
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse	ORPHA:2868
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly...	OMIM:235200
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Parc Syndrome	Absent eyelashes, Absent eyebrow, Alopecia	OMIM:600331
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h...	ORPHA:324604
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, ...	ORPHA:367
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Left-to-right shunt, Muscular ventricular septal defect, Patent ductus arteriosus, Abnormal heart...	ORPHA:363444
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, Facial hypotonia, First degree atrioventricular block, Polyhydramnios, Paten...	ORPHA:589821
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Pulmonic sten...	OMIM:179613
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ...	ORPHA:66634
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia	OMIM:614654
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Bacterial endocarditis, Premature ventricular contraction	ORPHA:1964
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Absent P wave, Sudden cardiac death, First degree atrioventricular block...	OMIM:310300
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia	ORPHA:324588
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophi...	ORPHA:251071
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular...	ORPHA:70591
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ...	OMIM:617397
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Ventricular septal defect, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Emanuel Syndrome	Recurrent respiratory infections, Torticollis, Ventricular septal defect, Truncus arteriosus, Con...	OMIM:609029
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect	ORPHA:40366
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Microphthalmia, Isolated, With Coloboma 4	Coloboma	OMIM:251505
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Birk-Aharoni Syndrome	Muscular ventricular septal defect	OMIM:620071
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Diastema, Patent ductus arteriosus, Thick lo...	OMIM:620185
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy	ORPHA:369847
8p23.1 deletion syndrome	Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he...	DECIPHER:39
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric...	OMIM:619167
Polyvalvular Heart Disease Syndrome	Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Arrhythmia, Pulm...	ORPHA:228410
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Hydrops fetalis, Myocardial fibrosis, Peric...	OMIM:253250
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis, Anterior cervical hypertrichosis, Sacral hypertrichosis, Thoracic hypertrichosis,...	OMIM:117850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
American Trypanosomiasis	Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Card...	ORPHA:3386
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Abnormal v...	ORPHA:163956
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole...	OMIM:618775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Retinal detachment, Death in infancy, Cataract, Remnants of the hyaloid vascular s...	OMIM:614643
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti...	OMIM:143200
X Small Rings	Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm	ORPHA:96201
Cardiac-Urogenital Syndrome	Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P...	ORPHA:542306
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract, Optic atrophy	ORPHA:2253
Multifocal Atrial Tachycardia	Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect...	ORPHA:3282
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect	OMIM:620062
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Hydrops Fetalis, Nonimmune	Congestive heart failure	OMIM:236750
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Varicose veins, Camptodactyly, Pulmonic stenosis, Aortic dissection, Vascular dilatation, Dermal ...	OMIM:618343
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Down Syndrome	Redundant neck skin, Ventricular septal defect, Complete atrioventricular canal defect, Patent du...	OMIM:190685
De Barsy Syndrome	Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular septal defect, Patent duct...	ORPHA:2962
Leopard Syndrome 1	Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola...	OMIM:151100
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
L-Ferritin Deficiency	Alopecia	OMIM:615604
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect	OMIM:615583
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Limb muscle...	OMIM:266500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Retinal nonattach...	OMIM:221900
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia, EMG: myo...	OMIM:609286
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Mesenteric cyst, Recurrent respiratory infections, Ventricular septal defect, Parachute mitral va...	OMIM:618316
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Mitral atresia, Increased hepatocellular lipid droplets, Microvesicular he...	OMIM:220111
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni...	ORPHA:1008
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2nd toe, Abnormal car...	ORPHA:2712
Monocyte Chemotactic Disorder	Cutaneous anergy	OMIM:252250
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal...	ORPHA:163596
Butyrylcholinesterase Deficiency	Congestive heart failure, Myocardial infarction	ORPHA:132
Emanuel Syndrome	Recurrent respiratory infections, Redundant neck skin, Ventricular septal defect, Truncus arterio...	ORPHA:96170
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Kerion Celsi	Recurrent cutaneous abscess formation, Alopecia	ORPHA:499
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects, Aortic aneury...	OMIM:620070
Neuroocular Syndrome	Synophrys, Lens coloboma, Microcornea, Downturned corners of mouth, Widely spaced teeth, Torus pa...	OMIM:619539
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate...	OMIM:611126
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Small hypothenar eminence, Mitral valve prolapse, Small thenar eminence, Camptodactyly, Joint con...	OMIM:211960
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy	ORPHA:91130
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav...	ORPHA:1055
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Facial hypotonia, Polyhydramnios, Congestive heart failure, Atrial septal ...	ORPHA:500533
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Bilateral ...	OMIM:611812
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy	Optic disc pallor, Claw hand deformity, Lower limb muscle weakness, Optic atrophy, Upper limb mus...	OMIM:618511
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta	OMIM:617260
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertr...	ORPHA:1349
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Ascending aorta hypoplasia, Flexion contracture, Facial erythema, Knee flexion con...	OMIM:619503
Ogden Syndrome	Torticollis, Ventricular septal defect, Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia	ORPHA:276432
Atransferrinemia	Congestive heart failure	OMIM:209300
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ...	OMIM:115195
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove...	ORPHA:324410
Geleophysic Dysplasia 1	Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve stenosis, Mit...	OMIM:231050
Faciocardiorenal Syndrome	Tricuspid valve prolapse, Endocardial fibroelastosis	ORPHA:1973
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect	OMIM:618354
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,...	ORPHA:170
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection...	OMIM:616166
Microphthalmia, Syndromic 2	Flexion contracture, Microcornea, Oligodontia, Fused teeth, Laterally curved eyebrow, Atrial sept...	OMIM:300166
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca...	OMIM:230500
Cln3 Disease	Left ventricular hypertrophy, T-wave inversion, Bradycardia	ORPHA:228346
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Camptodactyly	OMIM:618804
Leber Hereditary Optic Neuropathy, Modifier Of	Optic atrophy, Leber optic atrophy	OMIM:308905
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a...	OMIM:616866
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Webbe...	OMIM:609942
Mitral Valve Prolapse 1	Mitral regurgitation, Mitral valve prolapse	OMIM:157700
Morquio Syndrome C	Platyspondyly, Corneal opacity	OMIM:252300
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Jaundice, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Calf muscle pseudohypertrophy, Hepatomegaly, Congestive heart failure, Abnorma...	ORPHA:79083
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Mass Syndrome	Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Pneumonia, Flexion contracture, Recurrent upper respiratory tract infect...	OMIM:253200
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, High, narrow palate, Leuko...	ORPHA:2714
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Alopecia totalis, Abnormality of the nail	OMIM:302000
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve pr...	ORPHA:230839
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Ectopia lentis, Hypoplastic toenails...	ORPHA:2325
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Familial Partial Lipodystrophy, Dunnigan Type	Hepatic steatosis, Hepatomegaly, Congestive heart failure, Abnormality of skeletal muscle fiber s...	ORPHA:2348
Necrotizing Enterocolitis	Shock, Edema, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Ascites	ORPHA:391673
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Refsum Disease	Skeletal muscle atrophy, Heart block, Splenomegaly, Cardiomyopathy, Dry skin	ORPHA:773
Ehlers-Danlos Syndrome, Hypermobility Type	Mitral valve prolapse	OMIM:130020
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati...	OMIM:208050
Auditory Neuropathy And Optic Atrophy	Rod-cone dystrophy, Optic atrophy	OMIM:617717
Alg9-Cdg	Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ...	ORPHA:79328
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial...	ORPHA:329336
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Raynaud phenomenon, Congestive heart failure...	ORPHA:206569
Ceroid Lipofuscinosis, Neuronal, 9	Rod-cone dystrophy, Optic atrophy, Death in childhood	OMIM:609055
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Elevated circulat...	ORPHA:52430
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect, Mitral regurgitation, Prolonged QRS...	OMIM:611174
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot	ORPHA:1919
Glycogen Storage Disease Xv	Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par...	OMIM:613507
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Synophrys, Decreased circulating total IgM, Scoliosis, Decreased circulating IgG level,...	OMIM:300861
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Cataract, Hirsutism	ORPHA:85288
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Cleft palate, ...	ORPHA:90654
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Redundant neck skin, Redundant skin, Congestive heart failure, Dilatation o...	ORPHA:90348
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia...	OMIM:609049
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa...	OMIM:249670
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Flynn-Aird Syndrome	Alopecia of scalp, Alopecia, Cataract, Kyphoscoliosis	OMIM:136300
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Optic Atrophy 8	Mitral regurgitation, Mitral valve prolapse	OMIM:616648
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal jugular vein morphology, Edema of the dorsum of feet, Increased...	ORPHA:275766
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Redundant neck skin, Ventricular septal defect, Poly...	OMIM:301056
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Ragged-red muscle fibers, Third degree atrioventricular block	OMIM:530000
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, M...	ORPHA:746
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria, Cleft palate	OMIM:257910
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Increased variability in muscle fiber diameter, Bradycardia, Neonatal death, Weakness of facial m...	OMIM:620265
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Hepat...	ORPHA:465508
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Reticulated skin ...	ORPHA:79397
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy...	OMIM:619313
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc...	OMIM:619991
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:610599
Neonatal Marfan Syndrome	Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Flexion contracture, Heart murmur...	ORPHA:284979
Bardet-Biedl Syndrome 19	Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop...	OMIM:615996
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f...	OMIM:301500
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot	OMIM:615542
Central Core Disease	Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P...	ORPHA:597
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Pe...	ORPHA:477817
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan...	ORPHA:26791
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Congenital Heart Defects And Ectodermal Dysplasia	Atrioventricular canal defect, Dry skin, Thin skin	OMIM:617364
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Acromelic Frontonasal Dysostosis	Encephalocele, Hypopituitarism, Telecanthus, Remnants of the hyaloid vascular system, Optic nerve...	OMIM:603671
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h...	ORPHA:637
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Sparse hair	OMIM:275400
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron...	ORPHA:244
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery st...	ORPHA:96167
Cap Myopathy	Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,...	ORPHA:171881
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency	ORPHA:903
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar...	ORPHA:1120
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Cardiomega...	ORPHA:308552
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Cherry re...	ORPHA:796
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeated pneumothoraces, Atel...	ORPHA:536467
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Tetralogy Of Fallot	Tetralogy of Fallot	ORPHA:3303
Hypomelanosis Of Ito	Alopecia, Cataract, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Scoliosis, Iris...	OMIM:300337
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Prolonge...	OMIM:117550
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cardiomegaly, Heart block, Hepatic calcification, Cardiomyopathy, Reduced carnitine...	ORPHA:228308
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d...	OMIM:270100
Camurati-Engelmann Disease, Type 2	Hip contracture, Skeletal muscle atrophy, Knee flexion contracture, Mitral valve prolapse, Mitral...	OMIM:606631
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve...	OMIM:612289
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en...	ORPHA:95459
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Dilated ca...	OMIM:619573
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
16P12.1P12.3 Triplication Syndrome	Tachycardia, Abnormal heart morphology, Abnormal intrahepatic bile duct morphology, Abnormal tric...	ORPHA:485405
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Erythrokeratodermia Variabilis	Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Abnormal hair morphology, Abnormality...	ORPHA:317
Microphthalmia, Isolated 4	Coloboma	OMIM:613094
Stuve-Wiedemann Syndrome 2	Neonatal death, Congestive heart failure, Stillbirth, Pulmonary arterial hypertension	OMIM:619751
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Cardiomyopathy	OMIM:309930
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Cerebral berry aneurysm, Mitral valve prolapse	OMIM:173900
Dislocation Of The Hip-Dysmorphism Syndrome	Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology	ORPHA:2412
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Cong...	ORPHA:67
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Alg12-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Recurrent r...	ORPHA:79324
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Angina pectoris, Splenomegal...	ORPHA:565612
Kleefstra Syndrome	Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art...	ORPHA:261494
Leber Congenital Amaurosis 13	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret...	OMIM:612712
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans...	OMIM:605376
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M...	ORPHA:555877
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Patent ductus arteriosus, Atrial septal defect, Cholelithiasis, Do...	OMIM:614886
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Capillary Malformation-Arteriovenous Malformation	Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ...	ORPHA:137667
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Hypermelanotic macule, White hair, Blue irides, Premature graying o...	OMIM:619947
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g...	OMIM:619259
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Bilateral cleft lip and palate, Cho...	ORPHA:1473
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect	ORPHA:476126
Gómez-López-Hernández Syndrome	Toenail dysplasia, Alopecia of scalp, Corneal opacity	ORPHA:1532
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased p...	ORPHA:169154
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral regurgitation, Thin skin, Mitral valve prolapse	OMIM:225320
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276556
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse...	ORPHA:2251
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism, Neutropenia	ORPHA:90023
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Intracr...	ORPHA:363618
Fibrodysplasia Ossificans Progressiva	Alopecia, Abnormal vertebral morphology, Anemia, Spinal rigidity	ORPHA:337
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Albinism, Kyphosis, Platyspondyly, Hypopigmentation of the skin	ORPHA:2786
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Atrial Fibrillation, Familial, 15	Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu...	OMIM:615770
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Dry skin	OMIM:610768
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
10Q22.3Q23.3 Microdeletion Syndrome	Patent ductus arteriosus, Atrioventricular canal defect, Tricuspid valve prolapse	ORPHA:276413
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect...	OMIM:143095
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Hepatic steatosis, Hepatomegaly, Abnormal atrioventricular conductio...	ORPHA:280365
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc...	ORPHA:2331
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl...	OMIM:100300
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Congestive heart failure, Skeletal muscle hypertrophy,...	ORPHA:528
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block	ORPHA:480
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276575
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Cataract, Lower limb muscle weakness, Bilateral ptosis, Limb-girdle muscle weakness, Optic atroph...	ORPHA:329314
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Mitral valve prolapse	ORPHA:2233
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Dehydration, Abnorm...	ORPHA:1667
Coloboma Of Macula With Type B Brachydactyly	Coloboma	OMIM:120400
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Irregular vertebral endplates, Squared-off platyspondyly, ...	OMIM:271630
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly ...	ORPHA:261330
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, P...	ORPHA:508488
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scoliosis, Nail dysplasia	OMIM:615704
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, D...	OMIM:300998
Optic Atrophy 13 With Retinal And Foveal Abnormalities	Optic atrophy, Attenuation of retinal blood vessels	OMIM:165510
Microphthalmia, Isolated, With Coloboma 6	Coloboma	OMIM:613703
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ...	OMIM:115250
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis	OMIM:618624
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Atrial septal defect, Peripheral pulmonary artery stenosis	OMIM:614749
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Cardiomegaly, Right bund...	ORPHA:268
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Multiple muscular ventricular septal d...	OMIM:615508
Parastremmatic Dwarfism	Kyphosis, Scoliosis, Short neck	OMIM:168400
Alagille Syndrome	Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Periph...	ORPHA:52
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Lower limb muscle we...	ORPHA:1177
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati...	OMIM:234700
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Complete atrioventricular canal defect, Pulmonary hypoplasia, Neonatal death,...	OMIM:617925
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Pallor, Diffuse pancreatic islet hyperplasia, H...	ORPHA:276580
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Synophrys, Decreased circulating antibody level, Scoliosis, Hypertrichosis	ORPHA:85317
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Contractures-Developmental Delay-Pierre Robin Syndrome	Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis	ORPHA:436003
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothor...	OMIM:130050
Gm1 Gangliosidosis	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ...	ORPHA:354
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Recurrent pharyngitis,...	ORPHA:397
Hydrocephalus-Obesity-Hypogonadism Syndrome	Mitral valve prolapse	ORPHA:2183
Alpha-Heavy Chain Disease	Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia	ORPHA:100025
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon...	OMIM:609008
Combined Oxidative Phosphorylation Deficiency 28	Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios	OMIM:616794
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, S...	OMIM:615895
Lujo Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Generalized edema, Increased circulating lactate dehydrogen...	ORPHA:319213
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia...	ORPHA:508498
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Webbed neck	OMIM:619227
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be...	OMIM:614500
Hurler-Scheie Syndrome	Corneal opacity, Splenomegaly, Spinal canal stenosis, Abnormal vertebral morphology, Generalized ...	ORPHA:93476
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he...	OMIM:229300
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Synophrys, Low anterior hairline, Absent toenail, Long eyelashes, Small nai...	OMIM:618658
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Myocardial infarction, Raynaud phenom...	ORPHA:91139
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ...	ORPHA:100078
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome...	ORPHA:740
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Petechiae, Thin skin, Striae distensae, Mitral valve prolapse	OMIM:225310
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Atelectasis, Bronchiectasis, Cholestasis, Mitral valve pro...	OMIM:620233
Pseudoprogeria Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Sparse hair	ORPHA:2985
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri...	OMIM:601706
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Camptodactyly, Patent foramen ovale	OMIM:615539
Restrictive Dermopathy	Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Polyhydramnios, Patent ductus...	ORPHA:1662
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Erythema, Flexion contracture, Retinal hemorrhage, Hypert...	OMIM:614653
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Conjun...	ORPHA:2890
Brachytelephalangic Chondrodysplasia Punctata	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Patent du...	ORPHA:79345
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc...	OMIM:617253
Porphyria Cutanea Tarda	Facial hypertrichosis, Alopecia, Hyperpigmentation in sun-exposed areas, Onycholysis	OMIM:176100
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala...	OMIM:613870
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Ventricular septal defect, Mitral stenosis, Patent ductus arter...	ORPHA:955
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Oligohydramnios, Cutis laxa, Aor...	OMIM:614437
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T...	OMIM:613310
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Costello Syndrome	Ventricular septal defect, Redundant skin, Polyhydramnios, Lack of skin elasticity, Mitral valve ...	ORPHA:3071
Cofs Syndrome	Abnormality of retinal pigmentation, Death in infancy, Cataract, Camptodactyly of finger, Short n...	ORPHA:1466
Palmoplantar Keratoderma And Congenital Alopecia 2	Nail dystrophy, Alopecia totalis, Nail dysplasia, Developmental cataract	OMIM:212360
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Joint contracture of the 5th finger, Bradycardia, Atrioventricular block	OMIM:614407
Sandhoff Disease, Infantile Form	Reduced beta-hexosaminidase activity, Hepatosplenomegaly, Mitral valve prolapse, Mitral regurgita...	ORPHA:309155
Breath-Holding Spells	Pallor	OMIM:607578
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo...	ORPHA:183
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Congestive he...	OMIM:309900
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat...	OMIM:608779
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria...	OMIM:300887
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Tortuous cerebral arteries, Cutis laxa, Premature skin wrinkling, Dermal tr...	OMIM:616603
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong...	OMIM:609040
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated hepatic transaminase, Congestive heart failure, Left ventricular hypertrophy, Hepatic fa...	OMIM:619355
Marfan Syndrome	Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong...	OMIM:154700
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Spotty hypopigmentation, A...	ORPHA:1867
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, Blue sclerae, High palate, Atrial septal...	OMIM:612582
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Scoliosis, Abnormal form of the vertebral bodies, Corneal opacity	ORPHA:2370
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
3C Syndrome	Recurrent respiratory infections, Ventricular septal defect, Abnormal mitral valve morphology, Te...	ORPHA:7
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ...	OMIM:617087
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Pulmonary artery stenosis, Camptodactyly, Ankle flexion contracture, Knee flexion contracture	ORPHA:435938
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Flexion contracture, Elbow flexion contracture, Cutis laxa, Excessiv...	OMIM:614438
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Rod-cone d...	OMIM:204200
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Recurrent respiratory infections, Congestive heart failure, Patent ductus arteriosu...	OMIM:617303
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis...	OMIM:614262
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Peritonitis, Vasc...	ORPHA:727
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,...	OMIM:613873
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Elbow flexio...	ORPHA:97244
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve...	ORPHA:230851
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Melanocytic nevus, Dystrophic fingernails...	ORPHA:1882
Bleeding Disorder, Platelet-Type, 21	Alopecia, Psoriasiform dermatitis, Increased mean platelet volume, Impaired ADP-induced platelet ...	OMIM:617443
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Bifid Nose With Or Without Anorectal And Renal Anomalies	Ebstein anomaly of the tricuspid valve	OMIM:608980
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa...	ORPHA:228305
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Telangiectasi...	OMIM:137940
Syndromic Diarrhea	Aortic regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,...	ORPHA:84064
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Mosaic Trisomy 20	Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect	ORPHA:1724
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Thin upper lip vermilion, Cataract, Corneal opacity, Chorioretinal dysplasia,...	OMIM:152950
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo...	OMIM:121050
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring...	OMIM:600059
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy...	ORPHA:1166
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent sinopulmonary infections, Cardiomegaly, Respiratory tract infection, Sple...	ORPHA:581
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ...	ORPHA:98908
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Webbed neck, Pleural effusio...	OMIM:615355
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Myopathy, Arrhythmia	ORPHA:157973
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Pat...	ORPHA:261337
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ...	OMIM:203800
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Scoliosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:2850
Cardiofaciocutaneous Syndrome 2	Mitral valve prolapse	OMIM:615278
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph...	OMIM:614302
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C...	OMIM:611040
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Intrinsic hand muscle atrophy	OMIM:618569
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Patent...	ORPHA:466791
Fetal Encasement Syndrome	Bilateral trilobed lung, Tetralogy of Fallot, Congenital diaphragmatic hernia	OMIM:613630
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Intrauterine growth ret...	OMIM:616171
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Redundant neck skin, Cardiomegaly, Patent duc...	OMIM:618652
Combined Oxidative Phosphorylation Deficiency 22	Congestive heart failure, Pulmonary arterial hypertension	OMIM:616045
Atrophoderma Vermiculata	Heart block, Erythema	ORPHA:79100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir...	OMIM:614921
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:611225
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Mitral regurgita...	ORPHA:1101
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Arrhythmia, Atrioventricular block	ORPHA:93317
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly...	ORPHA:567
Congenital Myopathy 12	Pulmonary artery stenosis, Jaw contracture, Joint contracture of the hand, Camptodactyly	OMIM:612540
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Scorpion Envenomation	Bundle branch block, Edema, Prominent U wave, Elevated circulating aspartate aminotransferase con...	ORPHA:466677
Rhizomelic Chondrodysplasia Punctata	Alopecia, Cataract, Scoliosis, Spina bifida occulta, Sparse body hair	ORPHA:177
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atrioventricular block, Facial ...	OMIM:160900
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Dextrocardia	Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal lung loba...	ORPHA:1666
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hirsutism, Scoliosis	OMIM:300434
Idiopathic Congenital Hypothyroidism	Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:95717
Cronkhite-Canada Syndrome	Alopecia, Cataract, Abnormal fingernail morphology, Generalized hyperpigmentation, Hypoplastic to...	ORPHA:2930
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj...	OMIM:612843
Cardiospondylocarpofacial Syndrome	Mitral regurgitation, Mitral valve prolapse	ORPHA:3238
Mucolipidosis Type Iii	Corneal opacity, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:577
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia	ORPHA:3033
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit...	ORPHA:1054
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Vascular Ehlers-Danlos Syndrome	Redundant skin, Internal hemorrhage, Peripheral arteriovenous fistula, Varicose veins, Ascending ...	ORPHA:286
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia	ORPHA:346
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Werner Syndrome	Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas...	ORPHA:902
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Muscle fiber atrophy, Decreased muscle mass, Abnormal circulating enzyme concentration or activit...	ORPHA:1900
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic...	OMIM:613177
Moynahan Syndrome	Sparse hair, Alopecia	ORPHA:2574
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Dermal translucency, Cholestasis, Hepatosplenomegaly, Hepatic fibr...	ORPHA:541423
Lipoyltransferase 1 Deficiency	Elevated hepatic transaminase, Pulmonary arterial hypertension, Bradycardia, Decreased liver func...	OMIM:616299
Rheumatic Fever	Pericarditis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, Myocarditis...	ORPHA:3099
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ...	OMIM:249270
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Erythema, Mitra...	ORPHA:2556
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H...	OMIM:602782
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai...	ORPHA:90349
Liberfarb Syndrome	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment...	OMIM:618889
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Arterial rupture, Dermal translucency	OMIM:619120
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro...	OMIM:271530
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Thick eyebrow	ORPHA:2429
Leukoencephalopathy With Vanishing White Matter 2	Cataract, Optic atrophy, Lower limb muscle weakness	OMIM:620312
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Alopecia, Autoimmune hemolytic ...	OMIM:615559
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Camptodactyly of finger, Mitral valve prolapse, Mitral regurgitation, Pleuritis, Ca...	ORPHA:2848
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Cholecystitis, Ecchymosis, Internal hemo...	ORPHA:99827
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong...	OMIM:601808
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Optic Atrophy 1	Pallor	OMIM:165500
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Left atrial enlargement, Flexion contracture, Right bundle branch bl...	OMIM:614008
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis...	OMIM:616455
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular...	ORPHA:3287
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Fragile X Syndrome	Ascending tubular aorta aneurysm, Mitral valve prolapse	ORPHA:908
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Leber Congenital Amaurosis 2	Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino...	OMIM:204100
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Sparse hair, Pigmentary retinopathy, Alopecia, Long eyelashes	ORPHA:3363
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atria...	ORPHA:2257
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Hepatomegaly, Abnormal cardiac ventricle morphology, J...	ORPHA:85443
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Bicuspid aortic valve, Valvular pulmonary stenosis, Atrial septal defect, Patent foramen ovale, P...	OMIM:300707
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Death in infancy, Short neck, Cryptorchidism, Optic atrophy, Death in childhood, Thin vermilion b...	OMIM:618766
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Highly arched eyebrow	OMIM:609384
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ...	OMIM:614292
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Pulmonary artery stenosis, Joint...	OMIM:280000
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Pulmonic stenosis, Webbed neck, Atrial septal defect, Hypertrophic car...	OMIM:615279
Dental Anomalies And Short Stature	Mitral valve prolapse	OMIM:601216
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin...	OMIM:613327
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Congestive heart failure,...	ORPHA:505248
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141184
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Stickler Syndrome, Type Ii	Retinal detachment, Cataract, High, narrow palate, Pierre-Robin sequence, Abnormal vitreous humor...	OMIM:604841
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Brooke-Spiegler Syndrome	Facial palsy, Salivary gland neoplasm, Abnormality of the neck, Abnormality of the sublingual gla...	ORPHA:79493
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm...	OMIM:615206
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Arrhy...	ORPHA:156
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congest...	ORPHA:423
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Abdominal situs inversus, Pulmonic stenosis, Camptodactyly, ...	OMIM:619123
Primary Hyperoxaluria	Elevated hepatic transaminase, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopath...	ORPHA:416
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Stickler Syndrome Type 1	Mitral valve prolapse	ORPHA:90653
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level	OMIM:616576
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Cataract, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	OMIM:617404
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm, Joint contracture, Cutis laxa, Dermal translucency	OMIM:615349
Glutamine Deficiency, Congenital	Recurrent respiratory infections, Erythema, Flexion contracture, Bradycardia, Camptodactyly, Neon...	OMIM:610015
Mucopolysaccharidosis Type 1	Recurrent respiratory infections, Abnormal heart valve morphology, Congestive heart failure, Sple...	ORPHA:579
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se...	OMIM:210710
Rhizomelic Chondrodysplasia Punctata, Type 1	Coronal cleft vertebrae, Alopecia, Kyphoscoliosis, Developmental cataract	OMIM:215100
Developmental And Epileptic Encephalopathy 28	Epicanthus, Optic atrophy, Blue sclerae, Long philtrum, Retinal degeneration	OMIM:616211
Idiopathic Hypereosinophilic Syndrome	Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Pallor, Raynau...	ORPHA:3260
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Optic disc pallor, Death in infancy, Cataract, Ventricular septal defect, Cryptorchidism, Neonata...	OMIM:613730
Retinitis Pigmentosa 71	Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph...	OMIM:616394
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Myocardial infarction, Mitral valve prolapse, Stroke, Hepatic steatosis, Pancreatitis	OMIM:236200
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Hepatomegaly, Abnormality of the spleen, Abnormal lung lobation,...	ORPHA:2538
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Redundant skin, Congestive heart failure, Pneumothorax, Cutis laxa, Righ...	OMIM:617403
Olmsted Syndrome 1	Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Nail dysplasia, Opacification of the c...	OMIM:614594
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Optic atrophy, Myopathy, Neonatal death, Intrauterine growth retardation, Hy...	OMIM:618237
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy	ORPHA:3222
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis	OMIM:178650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Epistaxis, Mitral valve prolapse, Gastrointestinal angiodysplasia, A...	OMIM:193400
Leber Congenital Amaurosis 4	Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ...	OMIM:604393
Bohring-Opitz Syndrome	Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contrac...	ORPHA:97297
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Flexion c...	ORPHA:261519
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure, Splenomegaly,...	ORPHA:231226
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Weill-Marchesani Syndrome	Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis	ORPHA:3449
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu...	OMIM:618223
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ...	ORPHA:85446
Intellectual Developmental Disorder, X-Linked 101	Unilateral ptosis, Optic atrophy, Short philtrum	OMIM:300928
Keutel Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Hypertension, Pulmonary artery h...	OMIM:245150
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	OMIM:609260
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism	OMIM:604931
Leptospirosis	Hepatomegaly, Pericarditis, First degree atrioventricular block, Jaundice, Rhabdomyolysis, Retina...	ORPHA:509
Scapuloperoneal Myopathy, X-Linked Dominant	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,...	OMIM:300695
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Biliary atresia, Hypoplastic left heart, Tot...	OMIM:115470
Cednik Syndrome	Congestive heart failure, Stroke	ORPHA:66631
Carney Complex, Type 1	Congestive heart failure, Cardiac myxoma	OMIM:160980
Fragile X Syndrome	Mitral valve prolapse	OMIM:300624
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Recurrent respiratory infections, Ventricular septal defect, Peripheral pulmonary a...	OMIM:619575
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Turnpenny-Fry Syndrome	Aortic regurgitation, Recurrent respiratory infections, Torticollis, Facial hypotonia, Polyhydram...	OMIM:618371
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Leopard Syndrome 3	Dry skin, Abnormal aortic valve morphology, Webbed neck, Abnormal mitral valve morphology, Tetral...	OMIM:613707
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Micronodular cir...	OMIM:606003
Retinal Dystrophy And Obesity	Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi...	OMIM:616188
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Recurrent upper respiratory tr...	ORPHA:264450
Melnick-Needles Syndrome	Recurrent respiratory infections, Mitral valve prolapse, Stillbirth, Tricuspid valve prolapse, Pu...	OMIM:309350
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Transposition of the great arteries, Pulmonary hypoplasia, Neonatal...	OMIM:314390
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Retinitis Pigmentosa 30	Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy...	OMIM:607921
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Pneumothorax, Mitral valve prolap...	OMIM:601776
Noonan Syndrome 14	Aortic regurgitation, Scapular winging, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis,...	OMIM:619745
Noonan Syndrome 13	Lymphedema, Mitral valve prolapse, Mitral regurgitation, Webbed neck, Atrial septal defect, Dry skin	OMIM:619087
Retinitis Pigmentosa 57	Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro...	OMIM:613582
Classic Mycosis Fungoides	Alopecia, Splenomegaly, Hypopigmented skin patches, Irregular hyperpigmentation, Abnormal lymphoc...	ORPHA:2584
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta...	ORPHA:2876
Leber Congenital Amaurosis	Keratoconus, Abnormality of retinal pigmentation, Encephalocele, Cataract, Abnormal optic disc mo...	ORPHA:65
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Erdheim-Chester Disease	Abnormal pericardium morphology, Retroperitoneal fibrosis, Congestive heart failure, Abnormal pul...	ORPHA:35687
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:610359
Congenital Contractural Arachnodactyly	Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth...	ORPHA:115
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Stickler Syndrome, Type V	Retinal detachment, Pierre-Robin sequence, Vitreoretinopathy, Cataract	OMIM:614284
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Distal amyotrophy, Foot dorsiflexor weakness, Mitral valve prolapse	ORPHA:98
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Meacham Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Patent ductus...	ORPHA:3097
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Joint swelling, Mitral regurgit...	ORPHA:287
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Oculocerebrofacial Syndrome, Kaufman Type	Absent eyebrow, Chorioretinal dystrophy, Epicanthus, Telecanthus, Blepharophimosis, High, narrow ...	ORPHA:2707
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome	Thoracic kyphoscoliosis, Alopecia	OMIM:203550
Congenital Sialidosis Type 2	Abnormal EKG, Hepatomegaly, Edema, Respiratory tract infection, Abnormal heart morphology, Telang...	ORPHA:93400
Boudin-Mortier Syndrome	Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Mitral valve prolapse	OMIM:619543
Cone-Rod Dystrophy, X-Linked, 3	Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism...	OMIM:300476
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Proximal amyotrophy, Mitral valve prolapse, Striae distensae, Muscle f...	OMIM:606408
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Noonan Syndrome	Pulmonary artery stenosis, Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Abno...	ORPHA:648
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair	ORPHA:1839
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s...	OMIM:620351
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative retinopathy, E...	ORPHA:2788
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Tricuspid regurgitation, Dextrocardia, Coarctation of aorta	OMIM:618929
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardia, Supr...	OMIM:300855
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Limb joint contracture, Bradycardia	OMIM:619814
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Intestinal bleeding, Thin skin, Pulmonary fibrosis, Gastrointestinal tela...	OMIM:612199
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Lymphedema-Hypoparathyroidism Syndrome	Pulmonary lymphangiectasia, Mitral valve prolapse	OMIM:247410
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Leber Congenital Amaurosis 9	Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula...	OMIM:608553
Irvan Syndrome	Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ...	ORPHA:209943
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,...	OMIM:617877
Congenital Tracheomalacia	Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p...	ORPHA:95430
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent foramen ovale, Patent ductus arteriosus, Proximal muscle weakness in lower limbs, Aortic r...	ORPHA:280633
Pontocerebellar Hypoplasia, Type 1E	Elbow flexion contracture, Death in infancy, Optic atrophy, Knee flexion contracture	OMIM:619303
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Beta-Thalassemia Major	Hepatomegaly, Hypoplasia of the musculature, Hypersplenism, High-output congestive heart failure,...	ORPHA:231214
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Tachycardia, Aspiration pneumonia, Abnorma...	ORPHA:79264
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Cyclopia, Submucous cleft hard palate, Bilateral cleft l...	OMIM:157170
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Thin upper lip vermilion, Abnormal auditory evoked potentials, Low posterior h...	OMIM:617523
Retinitis Pigmentosa 11	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul...	OMIM:600138
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return	ORPHA:2184
Variant Abeta2M Amyloidosis	Amyloidosis of peripheral nerves, Intestinal perforation, Cardiac amyloidosis, Abnormality of the...	ORPHA:314652
Retinitis Pigmentosa 32	Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor...	OMIM:609913
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Sézary Syndrome	Alopecia, Abnormal immunoglobulin level, Splenomegaly, Nail dystrophy, Irregular hyperpigmentatio...	ORPHA:3162
Congenital Hydrocephalus	Optic atrophy, Abnormal heart morphology, Macular hypoplasia, Downslanted palpebral fissures, Iri...	ORPHA:2185
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Wiedemann-Rautenstrauch Syndrome	Prominent scalp veins, Camptodactyly of finger, Congenital malformation of the left heart, Skelet...	ORPHA:3455
Idiopathic Trachyonychia	Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na...	ORPHA:79153
Flynn-Aird Syndrome	Kyphosis, Alopecia, Cataract, Scoliosis	ORPHA:2047
Cartilage-Hair Hypoplasia	Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:175
Diabetic Embryopathy	Ventricular septal defect, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:1926
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du...	OMIM:300967
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Gm1-Gangliosidosis, Type Iii	Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Opacification of the co...	OMIM:230650
Exudative Vitreoretinopathy 6	Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen...	OMIM:616468
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Macroglossia, Dry skin, Bradycardia, Prolonged neonatal jaundice	ORPHA:226313
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, Blue sclerae, Nar...	ORPHA:457365
Congenital Ichthyosiform Erythroderma	Keratitis, Alopecia, Corneal erosion, Abnormality of the nail	ORPHA:79394
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease...	OMIM:300853
10Q22.3Q23.3 Microduplication Syndrome	Tetralogy of Fallot	ORPHA:276422
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ...	ORPHA:895
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Babesiosis	Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Jaundice, Recurrent ...	ORPHA:108
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot	ORPHA:1381
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Flexion contracture, ...	ORPHA:272
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Recurrent respiratory infections, Total anomalous pulmonary veno...	OMIM:106700
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Recurrent respiratory infecti...	OMIM:232300
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Pulmonary artery stenosis, Recurrent respiratory infections, Abn...	ORPHA:667
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, T...	OMIM:607823
Martsolf Syndrome 1	Cardiomyopathy, Recurrent respiratory infections, Cardiac arrest, Congestive heart failure	OMIM:212720
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Kyphosis, Low posterior hairline, Premature graying of hair, Vertebral se...	ORPHA:2617
Weill-Marchesani Syndrome 2	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont...	OMIM:608328
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent...	OMIM:164280
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Aortic root aneurysm, Thin skin, Mitral valve prolapse	ORPHA:449291
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Retinitis Pigmentosa 62	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst...	OMIM:614181
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Frank-Ter Haar Syndrome	Camptodactyly of finger, Mitral valve prolapse	ORPHA:137834
Charge Syndrome	Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal...	OMIM:214800
Retinitis Pigmentosa 73	Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge...	OMIM:616544
Usher Syndrome, Type 1M	Drusen, Optic disc pallor, Left ventricular hypertrophy	OMIM:618632
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypo...	ORPHA:100079
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ...	ORPHA:31824
German Syndrome	Camptodactyly of finger, Lymphedema, Abnormal cardiac septum morphology, Arthrogryposis multiplex...	ORPHA:2077
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduce...	ORPHA:542323
Wildervanck Syndrome	Facial palsy, Short neck, Meningocele, Low posterior hairline, Pseudopapilledema, Lens subluxatio...	ORPHA:3456
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Alopecia, Eosinophilia, Increased circulating IgE level, Spinal canal stenosis, Decreased circula...	OMIM:618282
Wiedemann-Steiner Syndrome	Synophrys, Blue sclerae, High palate, Atrial septal defect, Brow ptosis, Exaggerated cupid's bow,...	OMIM:605130
Familial Thyroid Dyshormonogenesis	Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:95716
Hec Syndrome	Cardiomyopathy, Arrhythmia, Polyhydramnios, Endocardial fibroelastosis	ORPHA:2119
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Cataract, Alopecia totalis	ORPHA:1366
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Blepharonasofacial Malformation Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Cryptorchidism, Non-midline cleft lip, Opti...	ORPHA:1252
Zika Virus Disease	Optic disc hypoplasia, Macular atrophy, Miscarriage, Retinal pigment epithelial mottling, Chorior...	ORPHA:448237
Vohwinkel Syndrome, Variant Form	Orthokeratosis, Hyperkeratosis, Parakeratosis, Honeycomb palmoplantar hyperkeratosis	OMIM:604117
Polysyndactyly With Cardiac Malformation	Ventricular septal defect, Polyhydramnios, Stillbirth, Atrial septal defect, Hepatic cysts	OMIM:263630
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Pul...	OMIM:616777
Frank-Ter Haar Syndrome	Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola...	OMIM:249420
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta...	OMIM:175050
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic...	OMIM:301022
Lyme Disease	Joint swelling, Arrhythmia, Atrioventricular block	ORPHA:91546
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Prominent superficial veins, Pulmonary insufficiency, Ventricular sept...	OMIM:619322
Baralle-Macken Syndrome	Kyphosis, Cafe-au-lait spot, Cataract, Hirsutism	OMIM:619255
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Loeys-Dietz Syndrome 4	Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Asc...	OMIM:614816
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented...	ORPHA:2885
Hardikar Syndrome	Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an...	OMIM:301068
Nicolaides-Baraitser Syndrome	Alopecia, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, Long eyelashes, Scoliosi...	ORPHA:3051
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol...	ORPHA:368
Retinitis Pigmentosa 81	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A...	OMIM:617871
Infantile Spasms-Broad Thumbs Syndrome	Optic disc pallor, Hypertrophic cardiomyopathy, Cataract, Downslanted palpebral fissures	ORPHA:3173
Alpha-Mannosidosis	Cataract, Corneal opacity, Short neck, Kyphosis, Splenomegaly, Scoliosis	ORPHA:61
Immunodeficiency, Common Variable, 1	Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec...	OMIM:607594
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
Chromosome 3Pter-P25 Deletion Syndrome	Atrioventricular canal defect	OMIM:613792
Suleiman-El-Hattab Syndrome	Optic disc pallor, Thin upper lip vermilion, Epicanthus, Thick eyebrow, Ventricular septal defect...	OMIM:618950
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Alagille Syndrome 1	Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def...	OMIM:118450
Retinitis Pigmentosa 70	Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of...	OMIM:615922
Autosomal Recessive Stickler Syndrome	Retinal detachment, Cataract, Cleft palate, Vitreoretinopathy, Astigmatism	ORPHA:250984
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Iris coloboma, Scoliosis	ORPHA:88630
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Joint contracture, Bradycardia, Limb hypertonia	OMIM:614498
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Kyphosis, Distichiasis, Scoliosis	ORPHA:2598
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea...	ORPHA:1806
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ...	ORPHA:508542
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Incontinentia Pigmenti	Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,...	OMIM:308300
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Blepharochalasis, Spontaneous neonatal pneumothorax, Redundant skin, Dermal translucency	OMIM:225410
Sialidosis Type 2	Splenomegaly, Kyphosis, Corneal opacity	ORPHA:87876
Hemoglobin D Disease	Pallor	ORPHA:90039
Brittle Cornea Syndrome 1	Palmoplantar cutis laxa, Mitral valve prolapse	OMIM:229200
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu...	ORPHA:45452
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis	OMIM:602723
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease	Papilledema, Retinal arteriolar constriction, Peripheral arterial stenosis	OMIM:124950
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Hypertension, Dilatation of th...	ORPHA:730
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:601859
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Ventricular septal defect, Cryptorchidism, Blue sclerae, Hypoplastic left heart, Intrau...	ORPHA:2772
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Retinitis Pigmentosa 50	Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal...	OMIM:613194
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Kyphosis, Microcornea, Long eyelashes, Scoliosis, Abnormality of the cervical spine	ORPHA:48431
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Polyhydramnios, Splenomegaly, Patent du...	OMIM:608149
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Usher Syndrome, Type Iiib	Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels	OMIM:614504
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm...	OMIM:105650
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc...	OMIM:614823
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bod...	OMIM:618961
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Hypermelanotic macule, Short neck, Ab...	OMIM:242900
Cardioacrofacial Dysplasia 2	Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus	OMIM:619143
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Alopecia, Kyphoscoliosis, Melanocytic nevus	OMIM:612079
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Camptodactyly of finger, Patent ductus arteriosus, Pulmonary artery hy...	OMIM:300963
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ...	OMIM:607872
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume...	OMIM:609813
Facial Clefting, Oblique, 1	Coloboma	OMIM:600251
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia, Skeletal muscle atrophy, Stroke-like episode	OMIM:619272
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Kyphosis, Coarse hair, Scoliosis, Sparse hair	ORPHA:1883
Oculoauriculovertebral Spectrum With Radial Defects	EMG: myopathic abnormalities, Atrioventricular canal defect, Aplasia/Hypoplasia of the lungs	ORPHA:2549
Schöpf-Schulz-Passarge Syndrome	Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:50944
Mucopolysaccharidosis Type 2, Severe Form	Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ...	ORPHA:217085
Leigh Syndrome	Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activity, Multiple joint co...	ORPHA:506
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures	Optic disc pallor, Cerulean cataract	OMIM:616732
Rodrigues Blindness	Microcornea, Sparse hair, Sclerocornea, Fine hair	OMIM:268320
Immunodeficiency, Common Variable, 10	Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased circulating total IgM, Decrea...	OMIM:615577
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Mucopolysaccharidosis Type 2	Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,...	ORPHA:580
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Pneumonia, Respiratory tract infection, Atelectasis, Bradycardia, Hy...	ORPHA:70587
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Blue sclerae, Decreased c...	OMIM:614170
Noonan Syndrome 9	Webbed neck, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Dermal translucency	ORPHA:529965
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Optic atrophy, Narrow mouth, Intrauterine growth retar...	ORPHA:1495
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Redundant skin, Carotid artery stenosis, Mitral valve prolapse, Aort...	OMIM:618000
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ventricula...	ORPHA:335
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Erythema, Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Astigmatism, Scoliosis	OMIM:615761
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Stillbirth, Blue sclerae, Developmental cataract	OMIM:259410
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Friedreich Ataxia 2	Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat...	OMIM:601992
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ...	ORPHA:217093
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Epicanthus, Tented upper lip vermilion, Telecanthus, Flexion contracture, Optic atrophy, Upslante...	OMIM:619383
Warburg Micro Syndrome 1	Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Thin vermilion border, Narrow...	OMIM:600118
Enthesitis-Related Juvenile Idiopathic Arthritis	Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart...	ORPHA:85438
Pilarowski-Bjornsson Syndrome	Dermal translucency	OMIM:617682
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Impaired T cell function, Short ne...	ORPHA:1830
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Lower...	ORPHA:459070
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Palpebral edema, Diastasis recti, Increased iduronate sulfata...	OMIM:252500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Medial calcification of large arteries, Congestive heart failure, Recurrent upper respiratory tra...	ORPHA:391487
Achondrogenesis Type 2	Retinal detachment, Cataract, Pierre-Robin sequence, Abnormal vitreous humor morphology, Lens sub...	ORPHA:93296
Digeorge Syndrome	Hepatic steatosis, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atelectasis...	OMIM:188400
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Irregular dentition, Cataract, Macular coloboma, Abnormal auditory evoked pote...	OMIM:619260
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Segmental peripheral demyelination/remyelination, Optic atrophy, Distal amyotrophy, Rod-cone dyst...	OMIM:311070
Serkal Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary hypoplasia, Pulmonic stenos...	ORPHA:139466
Cone-Rod Dystrophy 17	Cone/cone-rod dystrophy, Optic disc pallor	OMIM:615163
Retinitis Pigmentosa 83	Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster...	OMIM:618173
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp, Optic atrophy, Synophrys, Cleft palat...	OMIM:605282
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Abnormal retinal morphology, Facial palsy, Hand muscle weakness, Ragged-red mus...	ORPHA:254886
Retinitis Pigmentosa 38	Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy	OMIM:613862
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the ir...	ORPHA:3163
Dahlberg-Borer-Newcomer Syndrome	Lymphedema, Mitral valve prolapse	ORPHA:1563
Retinitis Pigmentosa 95	Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce...	OMIM:620102
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Upslanted p...	OMIM:617183
Kury-Isidor Syndrome	Alopecia, Sacral dimple, Short neck, Astigmatism, Scoliosis, Hypertrichosis	OMIM:619762
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis	OMIM:618453
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh...	ORPHA:894
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Thickened nuchal skin fold, Thin upper lip vermilion, Epicanthus, Cataract, Ventricular septal de...	OMIM:220500
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, He...	ORPHA:14
Goldberg-Shprintzen Syndrome	Telecanthus, Aganglionic megacolon, Ventricular septal defect, Highly arched eyebrow, Short neck,...	OMIM:609460
Immunodeficiency 49	Pulmonary artery stenosis	OMIM:617237
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Gingival overgrowth, High palate, Death in childhood, Retinopathy, Smooth philtrum...	OMIM:619422
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Mevalonic Aciduria	Downslanted palpebral fissures, Cataract, Blue sclerae	ORPHA:29
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Aplasia of...	ORPHA:2970
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Ascending tubular aorta...	ORPHA:444072
Scheie Syndrome	Spondylolisthesis, Corneal opacity, Short neck	OMIM:607016
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f...	ORPHA:558
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Abruzzo-Erickson Syndrome	Coloboma	OMIM:302905
D-Glyceric Aciduria	Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activity, Bradycardia	OMIM:220120
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Thin upper lip vermilion, Thick eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure, S...	OMIM:618737
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation	Alopecia	OMIM:242510
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Marburg Hemorrhagic Fever	Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Pancreatitis, Jaundice, Hypovole...	ORPHA:99826
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma	OMIM:148200
Riboflavin Transporter Deficiency	Optic disc pallor, Ptosis, Skeletal muscle atrophy, Iris hypopigmentation, Facial palsy, Abnormal...	ORPHA:97229
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Polysplenia, Partial atrioventricular canal ...	OMIM:619608
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Narrow mouth, Cataract, Retinal thinning, Asteroid hyalosis	OMIM:132450
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Hypertrichosis	OMIM:614898
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Xerostomia, Enlarged lacrimal glands, Abnormality of the orbital regio...	ORPHA:79078
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Atrial septal defect, Mitral valve prolapse	OMIM:300986
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R...	OMIM:601718
Lowry-Maclean Syndrome	Corneal opacity, Delayed eruption of primary teeth, Congenital diaphragmatic hernia, Bilateral cr...	ORPHA:2409
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Increased circulating IgE level, Scoliosis	ORPHA:1858
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Mitochondrial Complex I Deficiency, Nuclear Type 7	Death in infancy, Hypertrophic cardiomyopathy, Optic atrophy	OMIM:618229
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopa...	ORPHA:159
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Cataract	ORPHA:1875
Neuroectodermal Melanolysosomal Disease	Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat...	ORPHA:33445
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Melanocytic ...	ORPHA:978
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Edema, Splenomegaly, Jaundice, Pallor, Bradycardia, Hypotension, Decre...	ORPHA:90051
Ehlers-Danlos Syndrome, Classic Type, 1	Recurrent lower respiratory tract infections, Aortic root aneurysm, Recurrent sinusitis, Mitral v...	OMIM:130000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Cataract	OMIM:618392
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Kabuki Syndrome 2	Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:300867
Congenital Myopathy 20	Skeletal muscle atrophy, Epicanthus, Scapular winging, Elbow contracture, Centrally nucleated ske...	OMIM:620310
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Optic disc pallor, Epicanthus, Optic atrophy, Wide mouth, Upslanted palpebral fissure, High palate	OMIM:615722
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol...	ORPHA:98973
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ...	ORPHA:3453
Cdkl5-Deficiency Disorder	Kyphosis, Synophrys, Scoliosis	ORPHA:505652
Mucolipidosis Iv	Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity	OMIM:252650
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Retinitis Pigmentosa 63	Optic disc pallor, Rod-cone dystrophy	OMIM:614494
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Pallor	OMIM:613561
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Generalized muscle h...	OMIM:235730
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Occipital encephalocele, Cataract, Calf muscle pseudohypertrophy, Optic nerve...	ORPHA:370959
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Atrial septal defect, Right atrial enlargement	OMIM:615219
Pigmented Paravenous Chorioretinal Atrophy	Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy	OMIM:172870
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Ventricular septal defect, Cryptorchidism, Optic atrophy, Abnormal heart morphology, ...	ORPHA:494344
Fg Syndrome Type 1	Progressive flexion contractures, Facial wrinkling, Coarctation of aorta, Mitral valve prolapse, ...	ORPHA:93932
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Hurler-Scheie Syndrome	Corneal opacity, Splenomegaly, Kyphosis, Scoliosis, Hirsutism	OMIM:607015
Wrinkly Skin Syndrome	Scapular winging, Redundant skin, Hypoplasia of the musculature, Muscular ventricular septal defe...	OMIM:278250
Stickler Syndrome, Type I, Nonsyndromic Ocular	Optically empty vitreous, Rhegmatogenous retinal detachment	OMIM:609508
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta...	OMIM:300918
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Onycholysis, Pterygium	ORPHA:525
Listeriosis	Pericarditis, Liver abscess, Pneumonia, Myocarditis, Congestive heart failure, Rhabdomyolysis, Ja...	ORPHA:533
Leber Congenital Amaurosis 16	Optic disc pallor, Cataract	OMIM:614186
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block, Muscular dystrophy, Skeletal muscle hypertrophy	OMIM:613158
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cataract, Exaggerated cupid's bow, Highly arched eyebrow, Synophrys, Blue sclerae, Widely spaced ...	OMIM:619286
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia ...	ORPHA:290
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm...	OMIM:192430
Keratoderma Hereditarium Mutilans	Alopecia, Abnormality of the nail, Abnormal toenail morphology	ORPHA:494
Fibromuscular Dysplasia, Multifocal	Tortuous cerebral arteries, Carotid artery tortuosity, Vertebral artery tortuosity, Celiac artery...	OMIM:619329
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Oligohydramnios	OMIM:616914
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Erythema,...	ORPHA:550
Xp22.3 Microdeletion Syndrome	Sacral dimple, Opacification of the corneal stroma, Polycystic ovaries	ORPHA:1643
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ...	ORPHA:496790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan...	OMIM:256710
Monosomy 18P	Alopecia, Kyphoscoliosis, Short neck, Low posterior hairline, Webbed neck	ORPHA:1598
Vici Syndrome	Recurrent respiratory infections, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopath...	OMIM:242840
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Bilateral ptosis, Limb-girdle muscle weakness, Optic atrophy...	ORPHA:1215
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormality of the dentition, Abnormal lens morphology, Abnormality of ...	ORPHA:363417
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology...	ORPHA:904
White Forelock With Malformations	Epicanthus, Deep philtrum, Blue sclerae, Atrial septal defect, Spina bifida occulta, Abnormal pal...	ORPHA:2475
Kcnq2-Related Epileptic Encephalopathy	Pallor, Cerebral edema, Facial erythema	ORPHA:439218
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Ataxia-Telangiectasia	Hypopigmentation of hair, Decreased circulating antibody level, Premature graying of hair, Polycy...	ORPHA:100
Night Blindness, Congenital Stationary, Type 1G	Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy	OMIM:616389
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacificatio...	OMIM:158310
Trisomy 13	Cataract, Median cleft lip, Ventricular septal defect, Abnormality of the dentition, Abnormal ret...	ORPHA:3378
Bartsocas-Papas Syndrome	Corneal opacity, Alopecia totalis, Hypoplastic toenails, Popliteal pterygium, Sparse or absent ey...	ORPHA:1234
Sialidosis Type 1	Cataract, Corneal opacity, Kyphosis, Splenomegaly, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:812
Cohen Syndrome	Facial hypotonia, Mitral valve prolapse	OMIM:216550
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystroph...	OMIM:618373
Knobloch Syndrome	Retinal detachment, Occipital encephalocele, Cataract, Epicanthus, Dextrocardia, Ectopia lentis, ...	ORPHA:1571
Brachycephaly, Trichomegaly, And Developmental Delay	Epicanthus, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard palate, Thick lower ...	OMIM:617412
Hutchinson-Gilford Progeria Syndrome	Congestive heart failure, Angina pectoris, Myocardial infarction	OMIM:176670
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Thrombocytopenia, Hypopigmented skin patches, Ag...	ORPHA:47
Leukodystrophy, Hypomyelinating, 22	Optic disc pallor, Short neck, Flexion contracture, Lower limb hypertonia, Astigmatism, Upper lim...	OMIM:619328
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Macroglossia, Abnormal cardiac se...	ORPHA:96147
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Kyphosis, Corneal erosion, Sc...	ORPHA:816
Transketolase Deficiency	Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu...	ORPHA:488618
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Thin skin, Acantholysis	ORPHA:455
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Iris coloboma	OMIM:610023
Familial Multiple Lipomatosis	Abnormal tricuspid valve morphology	ORPHA:199276
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Abnormality of the dentition, Corneal erosion, Corneal sca...	ORPHA:90354
Retinitis Pigmentosa 26	Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:608380
Retinitis Pigmentosa 10	Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at...	OMIM:180105
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Filippi Syndrome	Ventricular septal defect, Cryptorchidism, Optic atrophy, Thin vermilion border, Short philtrum, ...	OMIM:272440
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Opacification of the corneal stroma, Scoliosis	OMIM:252605
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies	Thin upper lip vermilion, Torticollis, Epicanthus, Optic atrophy, Unilateral facial palsy, Astigm...	OMIM:618547
Srd5A3-Cdg	Cataract, Microcytic anemia, Abnormal hair morphology, Kyphosis, Abnormal sacrum morphology, Spot...	ORPHA:324737
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Reticular hyperpigmentation,...	OMIM:127550
Retinitis Pigmentosa	Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,...	ORPHA:791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Pulmonar...	ORPHA:96334
Neonatal Adrenoleukodystrophy	Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal palate morphology, Ptosis	ORPHA:44
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Albinism, Impaired platelet aggregation, Hypopigmentation of the skin, ...	OMIM:614072
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Cataract, Thin eyebrow, Iris coloboma	ORPHA:3242
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Ragged-red m...	ORPHA:255210
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ...	OMIM:245600
Immunodeficiency, Common Variable, 2	Impaired T cell function, Splenomegaly, Conjunctivitis, Decreased circulating IgG level, Partial ...	OMIM:240500
Williams-Beuren Syndrome	Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos...	OMIM:194050
Bresek Syndrome	Alopecia, Hemivertebrae, Iris coloboma, Scoliosis	ORPHA:85284
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Ebstein anomaly of the tricuspid valve, Distal ar...	ORPHA:506358
Pontocerebellar Hypoplasia, Type 1F	Telecanthus, Blue sclerae, Thick vermilion border, Long philtrum, Smooth philtrum	OMIM:619304
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Corneal neov...	ORPHA:163934
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Redundant skin, Abnormal tricuspid valve morphology, Abnormal aortic val...	ORPHA:192
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Pneumothorax, Mitral ...	OMIM:617402
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Griscelli Syndrome Type 2	Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Premature graying of hair...	ORPHA:79477
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Congestive heart failure, Jaund...	ORPHA:525731
Kleefstra Syndrome 2	Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Abnormality of skin pigmentation, Bone marrow hypocellularity, Nail dystrophy, Sparse hair	OMIM:616353
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Sjogren-Larsson Syndrome	Astigmatism, Thoracic kyphosis, Opacification of the corneal epithelium	OMIM:270200
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Mogs-Cdg	Decreased circulating IgG level, Alopecia, Thoracic scoliosis, Thrombocytopenia, Hepatosplenomega...	ORPHA:79330
Phacoanaphylactic Uveitis	Hypopyon, Keratitis, Abnormal pupil morphology, Vitritis, Abnormal vitreous humor morphology, Ret...	ORPHA:209959
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Platyspondyly, Thoracolumbar scoliosis, Abnormality of the nail	OMIM:313420
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Decreased circulating total IgM, Na...	OMIM:620040
Distal Deletion 17Q	Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, Patent ductus arteriosus, Optic atr...	ORPHA:1597
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Atypical Werner Syndrome	Skeletal muscle atrophy, Prominent superficial veins, Hepatic steatosis, Telangiectasia of the sk...	ORPHA:79474
Combined Oxidative Phosphorylation Defect Type 39	Abnormal circulating enzyme concentration or activity, Bradycardia, Congenital foot contractures,...	ORPHA:565624
Zellweger Syndrome	Thickened nuchal skin fold, Death in infancy, Epicanthus, Cataract, Abnormal chorioretinal morpho...	ORPHA:912
Pearson Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Cardiac conduction abnormality,...	ORPHA:699
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormal fifth cranial nerve morphology, Abnormal morphology of bony orbit of sk...	ORPHA:449563
African Trypanosomiasis	Abnormal EKG, Pericarditis, Hepatomegaly, Myocarditis, Congestive heart failure, Jaundice, Spleno...	ORPHA:3385
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect	OMIM:619135
Prune1-Related Neurological Syndrome	Cataract, Optic atrophy, Tongue fasciculations, Hypertrophic cardiomyopathy, Retinopathy	ORPHA:544469
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L...	ORPHA:277
8P11.2 Deletion Syndrome	Atrial septal defect, Splenomegaly, Patent ductus arteriosus, Mitral valve prolapse	ORPHA:251066
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Ca...	OMIM:256040
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Abnormality of the pulmonary artery, Pulmonic stenosis, Webbed ...	ORPHA:1131
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Amaurosis-Hypertrichosis Syndrome	Cone/cone-rod dystrophy, Retinal dystrophy, Abnormal eyelash morphology, Synophrys, Optic atrophy...	ORPHA:1021
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T...	ORPHA:2131
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Dehydration, Hype...	ORPHA:94093
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coo...	OMIM:304790
Vitamin K Antagonist Embryofetopathy	Cataract, Short neck, Myelomeningocele, Optic atrophy, Macroglossia, Intrauterine growth retardation	ORPHA:1914
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
Retinitis Pigmentosa 79	Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin...	OMIM:617460
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Myelofibrosis	Pallor, Purpura	OMIM:254450
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Decreased circulating IgA level, Opacification of the corneal stroma, Abnormal T cell morphology	OMIM:215250
Mucopolysaccharidosis, Type Vii	Anterior beaking of lower thoracic vertebrae, Thick eyebrow, Corneal opacity, Short neck, Hypopla...	OMIM:253220
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Increased proportion of gamma-delta T ...	OMIM:619774
Lissencephaly 5	Occipital encephalocele, Cataract, Optic atrophy	OMIM:615191
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure...	ORPHA:33226
Waardenburg-Shah Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit...	ORPHA:897
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Low anterior hairline	OMIM:613153
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Redundant neck skin, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, P...	ORPHA:2519
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Astigmatism, Frontal upsweep of hair, Scoliosis	OMIM:619797
Posterior Column Ataxia With Retinitis Pigmentosa	Skeletal muscle atrophy, Bone spicule pigmentation of the retina, Decreased sensory nerve conduct...	OMIM:609033
Avian Influenza	Elevated hepatic transaminase, Pneumonia, Congestive heart failure, Rhabdomyolysis, Pneumothorax,...	ORPHA:454836
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Erythema, Rhabdomyolysis, Intra...	ORPHA:449285
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Recurrent respiratory infections, Abnormal heart valve ...	ORPHA:77261
Pontocerebellar Hypoplasia, Type 16	Skeletal muscle atrophy, Ptosis, Cataract, Optic atrophy, Limb hypertonia	OMIM:619527
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Abnormal form of the vertebral bodies, Hepatosplenomegaly, Generalized...	ORPHA:93399
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Parietal Foramina 1	Encephalocele, Blue sclerae, Cleft palate, Cleft upper lip	OMIM:168500
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Thick eyebrow	OMIM:602562
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Bundle branch block, Hepatomegaly, Ventricular septal defect, Camptodactyl...	ORPHA:373
Carpenter Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Joint contracture of the hand, Transposition...	OMIM:201000
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Neoplasm of t...	ORPHA:171
Lissencephaly 8	Occipital encephalocele, Cataract, Optic atrophy, Skeletal muscle atrophy	OMIM:617255
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Cataract, Optic atrophy, Narrow palate, Joint contracture	OMIM:617481
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, High, narrow palate, Patent ductus arteriosus, Optic atrophy, Abnormal...	OMIM:608799
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo...	ORPHA:774
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short neck, Cryptorchidism, Dacryocystitis, Gingival overgrowth, Pseudohypoparathyroidism, Colobo...	ORPHA:464288
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia, Anemia	OMIM:226600
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti...	ORPHA:263479
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Long eyelashes, Long palpebral fissure, Rod-cone dystrophy, Limb hypertonia	OMIM:617276
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair, Hyperpigmentation of the skin	ORPHA:50812
Hyperkalemic Periodic Paralysis	Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Skeletal muscle hypertrop...	ORPHA:682
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Retinal detachment, Tented upper lip vermilion, Cataract, Exaggera...	OMIM:619833
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin, Congestive heart failure, Venous insufficiency, Arteriovenous malformation	ORPHA:137608
Epidermolysis Bullosa, Junctional 1A, Intermediate	Patchy alopecia, Nail dystrophy, Fragile nails	OMIM:226650
Cerebellofaciodental Syndrome	Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Short neck, Synophrys, Narrow palate, Hypoplasia of teeth, Wide mouth, Upslanted palpebral fissur...	OMIM:620250
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Sparse body hair	ORPHA:69735
Hunter-Macdonald Syndrome	Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp...	OMIM:611962
Gitelman Syndrome	Prolonged QT interval, Neoplasm of the pancreas, Raynaud phenomenon, Pericardial effusion, Rhabdo...	ORPHA:358
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow	OMIM:614564
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Alopecia, Corneal opacity, Kyphoscoliosis	OMIM:163200
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Fine hair, Premature gray...	OMIM:613990
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
Costello Syndrome	Redundant neck skin, Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon...	OMIM:218040
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Retinitis Pigmentosa 1	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:180100
Illum Syndrome	Calcinosis, Arthrogryposis multiplex congenita, Bradycardia	OMIM:208155
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Joubert Syndrome 14	Encephalocele, Epicanthus, Tented upper lip vermilion, Ventricular septal defect, Morning glory a...	OMIM:614424
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Erythema, Left ventricular hypertrophy, Cerebral edema	OMIM:618321
Walker-Warburg Syndrome	Retinal detachment, Skeletal muscle atrophy, Cataract, Retinal dystrophy, Chorioretinal dysplasia...	ORPHA:899
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Edema, Dilated cardiomyopathy, Pneumothorax, Dehydration, Bradycardia	ORPHA:79404
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Thin upper lip vermilion, Downturned corners of mouth, Upslanted palpebral fissure, Blue sclerae,...	ORPHA:231137
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Abnormal heart mor...	ORPHA:444077
Lacrimoauriculodentodigital Syndrome	Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid uvula, Increa...	ORPHA:2363
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Raynaud phenomenon, Abnormal lung...	ORPHA:167635
Marshall Syndrome	Retinal detachment, Cataract, Sparse eyelashes, Ectopia lentis, Abnormality of the dentition, Spa...	ORPHA:560
Incontinentia Pigmenti	Alopecia, Cataract, Corneal opacity, Abnormal fingernail morphology, Supernumerary nipple, Eosino...	ORPHA:464
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Optic disc pallor, Retinal dystrophy	OMIM:616079
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi...	OMIM:305620
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte...	ORPHA:56
Ichthyosis, Congenital, Autosomal Recessive 1	Sparse hair, Alopecia, Nail dystrophy, Nail dysplasia	OMIM:242300
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Stroke	ORPHA:3077
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Alopecia, Highly arched eyebrow, Hyperlordosis, Synophrys, Dystrophic toenail, Nail dystrophy, Sp...	ORPHA:3253
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Macular atrophy, Situs inversus totalis, Posterior subcapsular cataract, Rod-c...	OMIM:615434
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Thin skin, Mitral valve prolapse	OMIM:166200
Irida Syndrome	Pallor	ORPHA:209981
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Cataract, Kyphosis, Abnormal form of the vertebral bodie...	ORPHA:2635
Pancreatic insufficiency, combined exocrine	Congestive heart failure	OMIM:260450
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Kyphos...	ORPHA:35173
Kimura Disease	Abnormal salivary gland morphology	ORPHA:482
Pagod Syndrome	Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h...	ORPHA:991
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Short neck, Abnormal eyelash morphology, Apla...	ORPHA:1425
Scalp-Ear-Nipple Syndrome	Palpebral edema, Cardiac myxoma, Congestive heart failure, Hypertension, Supraventricular tachyca...	OMIM:181270
Proximal Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Centrally nucleated skeletal muscle fibers, Optic atrophy, Cardiomy...	ORPHA:401768
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Deafness-Lymphedema-Leukemia Syndrome	Pallor, Lymphedema	ORPHA:3226
Congenital Tracheal Stenosis	Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Patent ductus ar...	ORPHA:141127
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Webbed neck, Scoliosis, Short neck	ORPHA:178148
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Camptodactyly of finger, Thenar muscle atrophy, Dental malocclusion, B...	OMIM:612350
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Cataract, Decreased nerve conduction velocity, Achilles tendon contracture, Optic atrophy, Distal...	OMIM:612674
Macular Dystrophy With Central Cone Involvement	Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo...	OMIM:616170
Borjeson-Forssman-Lehmann Syndrome	Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis	OMIM:301900
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Cataract, Hyperlordosis, Kyphosis, Polycystic ovaries	ORPHA:3085
Aarskog-Scott Syndrome	Congestive heart failure, Camptodactyly of finger	ORPHA:915
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Kyphosis, Vertebral segmentation defect, Scoliosis, Sparse hair, Abnormal toenail morph...	ORPHA:1005
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Thin upper lip vermilion, Epicanthus, Short neck, Synophrys, Hypoplasia of teeth, Downturned corn...	ORPHA:391408
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Epicanthus, Ventricular septal defect, Highly arched eyebrow, Short nec...	OMIM:158170
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Kyphosis, Scoliosis	ORPHA:276630
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Blue sclerae, Heterochromia iridis	ORPHA:66633
Acquired Idiopathic Sideroblastic Anemia	Splenomegaly, Congestive heart failure, Pallor, Hepatomegaly	ORPHA:75564
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit...	ORPHA:91347
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Developmental cataract, Peri...	OMIM:618651
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Congestive heart fail...	OMIM:182250
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Thin upper lip vermilion, Decreased muscle mass, Abnormal heart valve morphol...	ORPHA:2953
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Orofacial cleft, Downturned corners of mouth, Blue sclera...	ORPHA:1507
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
X-Linked Intellectual Disability, Najm Type	Cataract, Optic nerve hypoplasia, Optic atrophy, Chorioretinal coloboma, Long philtrum	ORPHA:163937
Fibrodysplasia Ossificans Progressiva	Alopecia, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Scoliosis	OMIM:135100
Cohen Syndrome	Abnormal eyelid morphology, High, narrow palate, Short philtrum, Iris coloboma, Chorioretinal dys...	ORPHA:193
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mitral valve prola...	ORPHA:2462
Jalili Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro...	OMIM:217080
Kapur-Toriello Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Tarp Syndrome	Subdural hemorrhage, Tetralogy of Fallot, Neonatal death, Atrial septal defect, Hepatic failure, ...	OMIM:311900
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Ptosis, Decreased muscle mass, Cryptorchidism, Flexion...	OMIM:615663
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA...	OMIM:603909
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Flexion contracture, Xerostomia, Skin ulcer...	ORPHA:220393
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Barber-Say Syndrome	Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency	OMIM:209885
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Epicanthus, Thick eyebrow, Abnormality of the dentition, Cryptorchidism, Fundus atrophy, Synophry...	ORPHA:1970
Intermediate Uveitis	Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Band keratopathy, ...	ORPHA:279914
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Loss of ...	OMIM:263700
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy, Nasolacrimal duct...	ORPHA:440727
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, I...	ORPHA:79102
Woods Syndrome	Ventricular septal defect, Thin vermilion border, Optic atrophy, Supernumerary nipple	OMIM:615236
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Optic atrophy, Arter...	OMIM:606519
Spondyloocular Syndrome	Lymphedema, Mitral valve prolapse, Webbed neck, Atrial septal defect, Dysplastic aortic valve	OMIM:605822
Oculomaxillofacial Dysostosis	Abnormal eyelash morphology, Sparse or absent eyelashes, Corneal opacity, Aplasia/Hypoplasia of t...	ORPHA:1794
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary hypoplasia, Transposition of...	OMIM:313850
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten...	ORPHA:85450
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Optic atrophy, Upslanted palpebral fissure, Cardiomyopathy, Short philtrum, Op...	OMIM:618437
Mucopolysaccharidosis, Type Ivb	Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kypho...	OMIM:253010
Stickler Syndrome, Type I	Mitral valve prolapse	OMIM:108300
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Omenn Syndrome	Alopecia, Eosinophilia, Splenomegaly, Leukocytosis, Aplasia/Hypoplasia of the eyebrow, Abnormal l...	ORPHA:39041
Triple A Syndrome	Optic atrophy, Abnormality of the calf musculature, Abnormality of the hypothenar eminence, Anter...	ORPHA:869
Chanarin-Dorfman Syndrome	Alopecia, Subcapsular cataract	OMIM:275630
Tetrasomy 5P	Recurrent respiratory infections, Redundant neck skin, Congestive heart failure, Aplasia/Hypoplas...	ORPHA:3309
Adams-Oliver Syndrome 2	Alopecia, Low anterior hairline, Small nail, Developmental cataract	OMIM:614219
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Conjunctivitis, Sparse hair, Fragile nails	OMIM:242150
Classical-Like Ehlers-Danlos Syndrome Type 2	Redundant skin, Carotid artery stenosis, Pericardial effusion, Prominent veins on trunk, Mitral v...	ORPHA:536532
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cataract, Hyperpigmentation of the skin, Nail dystrophy, Nail dysplasia, Anemia	OMIM:175500
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Skeletal muscle atrophy, Atrial fibrillation, Prolonged QRS comple...	ORPHA:273
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Coarse hair, Thick ...	ORPHA:585
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Mitral valve prolapse	OMIM:618874
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Neurofibroma	Symmetric spinal nerve root neurofibromas, Peripheral nerve compression, Paraspinal neurofibroma,...	ORPHA:252183
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Optic disc pallor, Flexion contracture, Death in adolescence, Long eyelashes, Ptosis	OMIM:619076
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Mitral valve prolapse	OMIM:104350
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Dry skin	ORPHA:90674
Hallermann-Streiff Syndrome	Natal tooth, Cataract, Sparse eyelashes, Selective tooth agenesis, Spina bifida, Sparse eyebrow, ...	OMIM:234100
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Retinitis Pigmentosa 72	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip...	OMIM:616469
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Corneal opacity, Hyperpigmentation of the skin, Onychogryposis, Depigmentation/hyperpig...	ORPHA:79396
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Epicanthus, Cryptorchidism, Downturned corners of mouth, Oligodontia, Blue sclerae, Narrow mouth,...	OMIM:616817
Graves Disease, Susceptibility To, 1	Congestive heart failure	OMIM:275000
Hypothyroidism Due To Tsh Receptor Mutations	Macroglossia, Bradycardia, Edema, Prolonged neonatal jaundice	ORPHA:90673
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Thoracic scoliosis, Cataract, Band keratopathy, Microcytic anemia, Low posterior hairli...	ORPHA:2959
Hyperoxaluria, Primary, Type I	Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventricular block, Deh...	OMIM:259900
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Splenomegaly, Congestive heart failure, Jaundice, Pallor	ORPHA:90033
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Grange Syndrome	Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis,...	OMIM:602531
Grubben-De Cock-Borghgraef Syndrome	Blue sclerae, Short neck, Abnormality of the dentition	ORPHA:2101
Knobloch Syndrome 1	Occipital encephalocele, Persistent pupillary membrane, Spina bifida occulta, Attenuation of reti...	OMIM:267750
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block, Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle w...	OMIM:616479
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Vascular dilatation	ORPHA:221098
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Facial palsy, Limb muscle weakness, Left bundle branch block, Abno...	OMIM:610131
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myositis, Pneumonia, Edema, Respiratory tract infection, Myocarditis, Periton...	ORPHA:36234
Mucopolysaccharidosis Type 4	Corneal opacity, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoli...	ORPHA:582
Menkes Disease	Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin	OMIM:309400
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Congestive heart failure, Flexion contracture, Recurrent pneumonia, Dehydration, ...	OMIM:616271
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation	ORPHA:53721
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Epicanthus, Flexion contracture, Optic atrophy, Bifid uvula, High palate, Arthro...	OMIM:601110
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Warburg Micro Syndrome 3	Decreased muscle mass, Cataract, Flexion contracture, Optic atrophy, Narrow palate, Developmental...	OMIM:614222
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po...	ORPHA:99956
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Short neck, Anteriorly placed anus, Downturned corners of mouth, Blue sc...	OMIM:616894
Vici Syndrome	Abnormality of retinal pigmentation, Death in infancy, Cataract, Optic atrophy, Cardiomyopathy, H...	ORPHA:1493
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Tented upper lip vermilion, Flexion contracture, Optic atrophy, Alveolar ridge overgrowth, Short ...	OMIM:618346
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Keratitis, Corneal scarring, Nail dystrophy, Recurrent corneal erosions, Opaci...	OMIM:256800
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Jacobsen Syndrome	U-Shaped upper lip vermilion, Epicanthus, Telecanthus, Ventricular septal defect, Short neck, Abn...	OMIM:147791
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Corneal opacity, Hypopigmented skin patches, Iris coloboma	ORPHA:1647
Localized Junctional Epidermolysis Bullosa	Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, N...	ORPHA:251393
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Abnormality of the...	OMIM:222470
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin...	OMIM:600132
Hurler Syndrome	Corneal opacity, Short neck, Hypoplasia of the odontoid process, Kyphosis, Splenomegaly, Hepatosp...	OMIM:607014
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Hypermelanotic m...	ORPHA:1775
Sifrim-Hitz-Weiss Syndrome	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ...	OMIM:617159
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ...	ORPHA:1780
Fucosidosis	Kyphosis, Corneal opacity, Abnormality of the nail, Anterior beaking of lumbar vertebrae	ORPHA:349
Braddock Syndrome	Congenital muscular torticollis, Epicanthus, Short neck, Blue sclerae, Blepharophimosis, Intraute...	ORPHA:52047
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Alopecia, Severe B lymphocytopenia, Psoriasiform dermatitis, Alopecia totalis, Autoimmune thrombo...	ORPHA:293978
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Retinitis Pigmentosa 43	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme...	OMIM:613810
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Thin skin, Anemia, Iris hyp...	ORPHA:2719
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Distal Deletion 13Q	Encephalocele, Anencephaly, Optic atrophy, Abnormal cardiac septum morphology, Iris coloboma, Ana...	ORPHA:1590
Infantile Refsum Disease	Cataract, Facial palsy, Optic atrophy, Cardiomyopathy, Rod-cone dystrophy	ORPHA:772
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Retinitis Pigmentosa 12	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:600105
Mosaic Trisomy 1	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio...	ORPHA:1692
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po...	ORPHA:280921
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Thin upper lip vermilion, Epicanthus, Lacrimal duct stenosis, Intestinal malrotation, Ventricular...	ORPHA:457193
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Acute leukemia	ORPHA:281090
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Kniest Dysplasia	Retinal detachment, Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Cataract, ...	ORPHA:485
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante...	ORPHA:3214
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Congestive heart failure, Jaundice, Splenomegaly, Myopathy, Cholecystiti...	OMIM:615512
Takenouchi-Kosaki Syndrome	Synophrys, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Long philtrum, Highl...	OMIM:616737
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea	ORPHA:83461
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Retinitis Pigmentosa 60	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613983
Alopecia-Intellectual Disability Syndrome 4	Alopecia	OMIM:618840
Difference Of Sex Development-Intellectual Disability Syndrome	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairline, Spina bifida occulta	ORPHA:2983
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Wolff-Parkinson-White syndrome, Macroglossia, Mitral valve prolapse	ORPHA:369950
Satoyoshi Syndrome	Alopecia, Alopecia universalis	OMIM:600705
Filippi Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Optic atrophy, Thin vermilion bo...	ORPHA:3255
Oculocerebrocutaneous Syndrome	Alopecia	OMIM:164180
Roifman Syndrome	Biconvex vertebral bodies, Eosinophilia, Hyperconvex nail, Prominent eyelashes, Hepatosplenomegal...	ORPHA:353298
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Gomez-Lopez-Hernandez Syndrome	Alopecia, Opacification of the corneal stroma	OMIM:601853
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Trisomy 9P	Sacral dimple, Short neck, Hypoplastic toenails, Kyphosis, Abnormal pupil morphology, Fingernail ...	ORPHA:236
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Pedal edema, Mitral valve prolapse, Macroglossia, Varicose veins	OMIM:617107
Pyruvate Kinase Deficiency Of Red Cells	Pallor, Nonimmune hydrops fetalis	OMIM:266200
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Abnormal vertebral morphology, Supernumerary nipple	ORPHA:3224
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Conical tooth, Persistence of primary teeth, Optic atrophy, Dental malocclusion, Unilat...	OMIM:618727
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Cataract, Sparse eyelashes, Sparse scalp hair, Kyphoscoliosis, Absent e...	OMIM:268400
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Corneal opacity, Short neck, Splenomegaly, Scoliosi...	ORPHA:584
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy, Highly arched eyebrow	OMIM:617121
Joubert Syndrome 23	Coloboma	OMIM:616490
Arthrogryposis, Distal, Type 5	Keratoconus, Abnormality of retinal pigmentation, Kyphosis, Keratoglobus, Astigmatism, Scoliosis	OMIM:108145
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula...	OMIM:308230
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of...	ORPHA:2269
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Cataract, Morning glory anomaly, Optic atrophy, Myopat...	ORPHA:98673
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia, Keratoconjunctivitis	ORPHA:79242
Biemond Syndrome Type 2	Coloboma	ORPHA:141333
Muscle-Eye-Brain Disease	Myopathy, Meningocele, Cataract, Optic atrophy	ORPHA:588
Mcdonough Syndrome	Kyphosis, Synophrys, Scoliosis	ORPHA:2471
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly	OMIM:619170
Kabuki Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Microcornea, Coloboma, Blue sclerae, High palat...	ORPHA:2322
Blau Syndrome	Pericarditis, Cataract, Facial palsy, Camptodactyly of finger, Abnormal retinal vascular morpholo...	ORPHA:90340
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Generalized hirsutism	ORPHA:238750
Wolfram Syndrome 1	Cataract, Optic atrophy, Pigmentary retinopathy, Cardiomyopathy, Testicular atrophy, Ptosis	OMIM:222300
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Orofacial cleft, Microcornea, Eyelid coloboma, High p...	ORPHA:141099
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Blue sclerae, Downslanted palpebral fissures, Thenar muscle atrophy	ORPHA:157965
Oculocutaneous Albinism Type 2	Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormali...	ORPHA:79432
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Thin upper lip vermilion, Epicanthus, Telecanthus, Intestinal malrotation, Atr...	OMIM:244450
Isolated Atp Synthase Deficiency	Cataract, Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Rod-cone dystrophy,...	ORPHA:254913
Intellectual Developmental Disorder, Autosomal Dominant 26	Highly arched eyebrow, Kyphosis, Thick eyebrow, Scoliosis	OMIM:615834
Toriello-Carey Syndrome	Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog...	ORPHA:3338
Treacher Collins Syndrome 1	Sparse lower eyelashes, Cleft soft palate, Lacrimal duct stenosis, Cryptorchidism, Upper eyelid c...	OMIM:154500
Johnson Neuroectodermal Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Sparse hair	ORPHA:2316
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ...	OMIM:274000
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Dravet Syndrome	Pallor	ORPHA:33069
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Alopecia, Cataract, Asplenia, Keratoconjunctivitis, Pigmentary retinopathy, Nail dystrophy, Alope...	OMIM:240300
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Slow-growing hair, Short neck, Abnormal hair morphology, Kyphosis, Uncombable hair, Aplasia/Hypop...	ORPHA:3082
Autosomal Recessive Cutis Laxa Type 2A	Abnormal cornea morphology, Corneal opacity, Thick hair	ORPHA:357058
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease...	OMIM:600802
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Scoliosis, Short neck	OMIM:611890
Encephalitis Lethargica	Upper limb muscle weakness, Bradycardia	ORPHA:83600
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Cataract, Pericardial effusion, Optic atrophy, Opto-chiasmatic atrophy, ...	OMIM:620089
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn...	ORPHA:3047
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Occipital encephalocele, Retinal atrophy, Corneal opacity, Optic nerve hypopl...	OMIM:236670
Legius Syndrome	Paroxysmal atrial tachycardia, Non-small cell lung carcinoma, Pulmonic stenosis, Mitral valve pro...	ORPHA:137605
Acrocallosal Syndrome	Downturned corners of mouth, Coloboma, High palate, Short philtrum, Prominent palatine ridges, Bi...	OMIM:200990
Lipoid Proteinosis Of Urbach And Wiethe	Patchy alopecia	OMIM:247100
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation...	ORPHA:363700
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Kyphosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3098
Beta-Thalassemia Intermedia	Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure, Splenomegaly, Jaund...	ORPHA:231222
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu...	ORPHA:353281
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Abnormal heart morphology, Contractures of the large joi...	ORPHA:96092
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Pseudodiastrophic Dysplasia	Short neck, Webbed neck, Blue sclerae, Camptodactyly, Smooth philtrum	OMIM:264180
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Atrio...	OMIM:617088
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c...	OMIM:614195
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Breast aplasia, Thin skin, Hyp...	ORPHA:90153
Obesity And Hypopigmentation	Red hair	OMIM:620195
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity	OMIM:166300
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium	OMIM:619339
Ane Syndrome	Hyperpigmented nevi, Alopecia, Hyperpigmentation of the skin, Kyphoscoliosis	ORPHA:157954
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N...	ORPHA:572
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Chromosome Xp11.3 Deletion Syndrome	Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, ...	OMIM:300578
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Torticollis, Congestive heart failure, Abn...	ORPHA:48818
Hip Dysplasia, Beukes Type	Kyphosis, Scoliosis	ORPHA:2114
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypopigmented skin patches	ORPHA:3143
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Kyphosis, Scoliosis	ORPHA:1548
Bathing Suit Ichthyosis	Sparse hair, Alopecia, Nail dystrophy	ORPHA:100976
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Sparse eyelashes, Ventricular septal defect, Optic atrophy, Hypoplasia of teeth, Micr...	OMIM:234050
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa...	ORPHA:31826
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c...	OMIM:615233
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Shallow anterior chamber, Hypoplastic ni...	OMIM:230740
Robinow Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Pulmonic stenosis, At...	ORPHA:97360
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Low anterior hairline, Coarse hair, Astigmatism, Generalized hirsutism	ORPHA:2095
Jaberi-Elahi Syndrome	Brittle hair, Cataract, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse ...	OMIM:617988
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Unil...	OMIM:619480
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Scoliosis	OMIM:112350
O'Donnell-Luria-Rodan Syndrome	Kyphosis	OMIM:618512
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Distal Deletion 3P	Atrioventricular canal defect	ORPHA:1620
Osteogenesis Imperfecta, Type Ii	Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis, Thin skin	OMIM:166210
Silver-Russell Syndrome 2	Downturned corners of mouth, Intrauterine growth retardation, Blue sclerae	OMIM:618905
Elliptocytosis 1	Pallor	OMIM:611804
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil...	OMIM:214500
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Cryptorchidism, Optic atrophy, Intrauterine growth retardation	OMIM:615597
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides, Spinal canal stenosis	OMIM:614613
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Cranioectodermal Dysplasia 3	Peripheral pulmonary artery stenosis	OMIM:614099
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V...	ORPHA:90307
H Syndrome	Abnormal eyebrow morphology, Alopecia, Histiocytosis, Psoriasiform dermatitis, Microcytic anemia,...	ORPHA:168569
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Elevated hepatic transaminase, Torticollis, Ventricular septal defect, Bicu...	OMIM:619475
Satoyoshi Syndrome	Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis	ORPHA:3130
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema	ORPHA:329971
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Decreased testicular size, Highly arched eyebrow, Cryptorchidism, Abnormal optic disc morphology,...	ORPHA:293967
Hall-Riggs Syndrome	Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis	OMIM:234250
Acrootoocular Syndrome	Delayed eruption of teeth, Epicanthus, Small hypothenar eminence, Decreased response to growth ho...	ORPHA:2980
Cold Agglutinin Disease	Pallor	ORPHA:56425
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Fish-Eye Disease	Splenomegaly, Corneal opacity	ORPHA:79292
Hurler Syndrome	Corneal opacity, Short neck, Splenomegaly, Spinal canal stenosis, Abnormality of skin pigmentatio...	ORPHA:93473
Acrodermatitis Enteropathica	Ridged nail, Abnormal eyebrow morphology, Alopecia, Corneal erosion, Paronychia, Conjunctivitis, ...	ORPHA:37
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Optic atrophy, Downturned corners of mouth, Thick vermilion border, Spina bifida occu...	ORPHA:1185
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Cataract, Scoliosis	OMIM:614409
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Opacification of the corneal stroma, Spina bifida occulta, Iris ...	OMIM:169550
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss...	ORPHA:500095
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Conjunctiva...	ORPHA:2399
Focal Dermal Hypoplasia	Alopecia, Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, ...	ORPHA:2092
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia	OMIM:269200
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patche...	ORPHA:2067
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Nail dysplasia, Iris coloboma	ORPHA:139471
Autism Spectrum Disorder Due To Auts2 Deficiency	Highly arched eyebrow, Kyphosis, Scoliosis	ORPHA:352490
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Blue sclerae, High palate, Atrial septal defec...	OMIM:615582
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Scoliosis	ORPHA:3454
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Patchy alopecia, Neutropenia, Vitiligo	OMIM:615387
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Thin vermilion border, Blue sclerae, Long eyelashes, Long philtrum, Long...	OMIM:614856
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Mitral v...	OMIM:259600
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Polyhydramnios, Recurrent pneumonia, Elbow flexion contracture, Mitral valve prolap...	ORPHA:508533
Jalili Syndrome	Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo...	ORPHA:1873
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Patent ductus arteriosus, Bradycardia, Jaundice	OMIM:617248
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sparse hair	OMIM:607626
Holoprosencephaly	Congenital diaphragmatic hernia, Short neck, Deep philtrum, Synophrys, Chorioretinal coloboma, Ir...	ORPHA:2162
Mevalonic Aciduria	Optic disc pallor, Cataract, Nuclear cataract, Blue sclerae, Downslanted palpebral fissures, Atte...	OMIM:610377
Mandibuloacral Dysplasia	Alopecia, Abnormality of skin pigmentation, Thin skin, Sparse hair, Hypoplastic fingernail	ORPHA:2457
Micro Syndrome	Abnormality of retinal pigmentation, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Retina...	ORPHA:2510
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx...	OMIM:156530
Enhanced S-Cone Syndrome	Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
2P15P16.1 Microdeletion Syndrome	Ptosis, Epicanthus, Telecanthus, Optic nerve hypoplasia, Facial palsy, Supernumerary nipple, Spar...	ORPHA:261349
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Leukodystrophy, Progressive, Early Childhood-Onset	Smooth philtrum, Optic disc pallor, Thick lower lip vermilion, Joint contracture, Thick eyebrow	OMIM:617762
Craniometaphyseal Dysplasia, Autosomal Recessive	Telecanthus, Facial palsy, Optic atrophy, Delayed eruption of permanent teeth, Broad alveolar ridges	OMIM:218400
Ablepharon Macrostomia Syndrome	Absent eyebrow, Corneal opacity, Abnormal hair pattern, Absent eyelashes, Corneal erosion, Fine h...	ORPHA:920
Marshall-Smith Syndrome	Protruding tongue, Optic atrophy, Gingival overgrowth, Blue sclerae, Open mouth	ORPHA:561
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Cleft palate, Developmental cataract, Downturned corners of mouth, Upslanted pal...	ORPHA:488642
Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Flexion contracture, Blue sclerae, Atrial septal defect, Megalocorne...	ORPHA:536471
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Aortic aneurysm, Camptodactyly, Mitral valve prolapse	OMIM:182212
Abnormal Hair, Joint Laxity, And Developmental Delay	Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow	OMIM:261990
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Short neck, High, narrow palate, Synophrys, Microcornea, Downtur...	OMIM:122470
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Retinitis Pigmentosa 41	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti...	OMIM:612095
Mosaic Trisomy 9	Corneal opacity, Short neck, Asplenia, Hemivertebrae, Webbed neck, Multiple renal cysts, Small na...	ORPHA:99776
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome	Skeletal muscle atrophy, Spina bifida occulta, Blue sclerae	ORPHA:2840
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Palpitations, Generali...	OMIM:602668
Bruck Syndrome 1	Kyphosis, Vertebral wedging, Platyspondyly, Scoliosis, Pterygium	OMIM:259450
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Facial palsy, Heart murmur, Mitral valve prolapse, Abnormal hea...	OMIM:615873
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Hyperconvex fingernails, Alopecia, Hypoplastic fingernail	ORPHA:257
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Neurooculorenal Syndrome	Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Dextrocardia, Mitral valve pro...	OMIM:620305
Congenital Muscular Dystrophy, Ullrich Type	Kyphosis, Spinal rigidity, Scoliosis, Short neck	ORPHA:75840
Roifman-Chitayat Syndrome	Lacrimal duct stenosis, Short neck, Thin lower lip vermilion, Optic atrophy, Umbilical hernia	OMIM:613328
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Low back pain, Alopecia	OMIM:600142
Vertebral Hypersegmentation And Orofacial Anomalies	Epicanthus, Scapular winging, Supernumerary nipple, Submucous cleft hard palate, Blue sclerae, Un...	OMIM:619122
Becker Nevus Syndrome	Hypermelanotic macule, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta	ORPHA:64755
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Retinal dystrophy, Bilateral ptosis, Optic atrophy, Flexion contracture of the 2nd finger, Thick ...	ORPHA:324540
Beta-Ketothiolase Deficiency	Pallor, Edema, Dehydration	ORPHA:134
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Absent eyebrow, Alopecia, Absent eyelashes, Renal cyst, Small nail, Cafe-au-lait spot	ORPHA:166035
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Lumbar hyperlordosis, Sparse facial hair, Sparse eyebrow, ...	ORPHA:2232
Chops Syndrome	Cataract, Ventricular septal defect, High, narrow palate, Cryptorchidism, Patent ductus arteriosu...	OMIM:616368
Combined Oxidative Phosphorylation Deficiency 39	Recurrent respiratory infections, Flexion contracture, Sinus bradycardia, Congenital contracture,...	OMIM:618397
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Benign Schwannoma	Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth...	ORPHA:252164
Renal Agenesis	Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Oligohydramnios	ORPHA:411709
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art...	ORPHA:51608
Sheehan Syndrome	Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Xerostomia, Conical incisor, Conjunctivitis, Microdontia, Corneal perfor...	OMIM:149730
Sarcoidosis	Hepatomegaly, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Abnormal ...	ORPHA:797
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Redundant skin, Congestive heart failure, Neonatal death, Palmoplantar cutis laxa, Pulmonary arte...	OMIM:616482
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93160
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten...	OMIM:604116
Uruguay Faciocardiomusculoskeletal Syndrome	Kyphoscoliosis, Kyphosis, Synophrys, Broad nail, Scoliosis, Thick eyebrow	OMIM:300280
Pachyonychia Congenita	Alopecia, Paronychia, Onychogryposis of toenails, Fingernail dysplasia, Nail dystrophy, Onychogry...	ORPHA:2309
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Mitral valve calcification, Bronchitis, Right ventricular failure, Increased pulmon...	ORPHA:60025
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Trichotillomania	Alopecia	OMIM:613229
Mckusick-Kaufman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect...	ORPHA:2473
Joubert Syndrome 16	Coloboma	OMIM:614465
Autoimmune Polyendocrinopathy Type 4	Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, L...	ORPHA:227990
Ichthyosis, Congenital, Autosomal Recessive 2	Abnormal hair morphology, Alopecia, Thin nail, Small nail	OMIM:242100
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Anonychia, Alopecia totalis, Absent fingernail	OMIM:609638
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Thin upper lip vermilion, Epicanthus, Blue sclerae, Everted lower lip vermilion, Downslanted palp...	OMIM:617101
Marshall Syndrome	Retinal detachment, Epicanthus, Cataract, Lens luxation, Thick lower lip vermilion, Pierre-Robin ...	OMIM:154780
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Absent eyebrow, Sacral dimple, Alopecia, Sparse eyelashes, Sparse scalp hair, Hypoplastic toenail...	ORPHA:544488
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad eyebrow, Corneal opacity, Corneal dystrophy, Short neck, Sparse eyebrow, Synophrys, Low ant...	ORPHA:495875
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Cataract, Redundant neck skin, Ventricular septal defect, Protrudi...	OMIM:214100
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Arrhythmia, Tetralogy ...	ORPHA:1519
Arthrogryposis, Distal, Type 4	Kyphosis, Low anterior hairline, Low posterior hairline, Lumbar scoliosis, Scoliosis	OMIM:609128
Alpha-Mannosidosis, Adult Form	Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Grant Syndrome	Open bite, Blue sclerae, Abnormal palate morphology	ORPHA:2097
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin...	ORPHA:2526
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Polyhydramnios, Congestive heart failure, Microvesicular hepatic s...	OMIM:617156
Kleefstra Syndrome 1	Macroglossia, Recurrent respiratory infections, Conotruncal defect	OMIM:610253
Mandibulofacial Dysostosis With Alopecia	Alopecia, Sparse eyelashes	OMIM:616367
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro...	OMIM:613617
8Q21.11 Microdeletion Syndrome	Cataract, Corneal opacity, Sclerocornea, Short neck, Iris hypopigmentation	ORPHA:284160
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Abnormality of retinal pigmentation, Corneal opacity, Ovoid vertebral bodies, Ectopia pupillae, P...	ORPHA:85167
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor...	ORPHA:3205
Harrod Syndrome	Multicystic kidney dysplasia, Cataract, Kyphosis, Hypopigmented skin patches, Scoliosis	ORPHA:2115
Igg4-Related Submandibular Gland Disease	Xerostomia, Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland,...	ORPHA:449432
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Punctate vertebral calcif...	OMIM:302960
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79395
Chime Syndrome	Ventricular septal defect, Erythema, Tetralogy of Fallot, Skin ulcer, Transposition of the great ...	ORPHA:3474
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Abnormal hair morphology, Nail dystrophy, Thin skin, Hyperpigmentation of the skin	ORPHA:90154
Diastrophic Dysplasia	Camptodactyly of finger, Cryptorchidism, Cleft palate, Blue sclerae, Intrauterine growth retardation	ORPHA:628
Knobloch Syndrome 2	Encephalocele, Retinal detachment, Anterior cortical cataract, Vitreous floaters, Pyloric stenosi...	OMIM:618458
Acromesomelic Dysplasia 4	Third degree atrioventricular block	OMIM:619636
Dyggve-Melchior-Clausen Disease	Corneal opacity, Short neck, Hypoplasia of the odontoid process, Abnormality of the vertebral end...	ORPHA:239
Tay-Sachs Disease	Pallor	OMIM:272800
Carney Complex	Neoplasm of the pancreas, Cardiac myxoma, Congestive heart failure, Hypertension, Dilatation of t...	ORPHA:1359
Laron Syndrome	Microdontia, Tooth agenesis, Blue sclerae, Delayed eruption of teeth	ORPHA:633
Mosaic Trisomy 8	Corneal opacity, Short neck, Hypopigmented skin patches, Vertebral segmentation defect, Scoliosis...	ORPHA:96061
Laron Syndrome	Blue sclerae	OMIM:262500
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology	ORPHA:2522
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Corneal stromal edema, Thin skin, Scoliosis, Sparse hair	OMIM:601812
Autoimmune Polyendocrinopathy Type 3	Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Decreased circulating antibody level, L...	ORPHA:227982
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Sympathetic Ophthalmia	Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul...	ORPHA:79098
Dyskeratosis Congenita, X-Linked	Ridged nail, Split nail, Alopecia, Cataract, Sparse eyelashes, Acute myeloid leukemia, Pancytopen...	OMIM:305000
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphosis, Kyphoscoliosis, Scoliosis	OMIM:618484
Linear Nevus Sebaceus Syndrome	Alopecia, Melanocytic nevus, Vertebral segmentation defect, Irregular hyperpigmentation, Iris col...	ORPHA:2612
Lcat Deficiency	Hemolytic anemia, Corneal opacity	ORPHA:650
Rubinstein-Taybi Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Respiratory tract infection, Patent ...	OMIM:180849
Autosomal Dominant Robinow Syndrome	Short neck, High, narrow palate, Abnormality of the gingiva, Downturned corners of mouth, Oligodo...	ORPHA:3107
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys...	OMIM:268315
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Patent ductus arterio...	ORPHA:818
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Leukodystrophy, Hypomyelinating, 25	Blue sclerae	OMIM:620243
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz...	ORPHA:636
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Telecanthus, Camptodactyly of finger, Supernumerary nipple, Lip pit, Blue sclerae, Hypodontia, Ir...	ORPHA:1236
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad eyebrow, Epicanthus, Ventricular septal defect, Cryptorchidism, Cleft lip, Patent ductus ar...	OMIM:616975
Joubert Syndrome 1	Optic disc pallor, Epicanthus, Retinal dystrophy, Highly arched eyebrow, Protruding tongue, Optic...	OMIM:213300
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Scoliosis	OMIM:259440
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Hirsutism	OMIM:615830
Centrifugal Lipodystrophy	Alopecia	ORPHA:90156
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Epicanthus, Cataract, Palpebral edema, Ventricular septal defect, Brushfield sp...	OMIM:614866
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Epicanthus, Optic nerve hypoplasia, Increased nuchal translucency, Opti...	ORPHA:357001
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Autoimmune thrombocytopenia, Sple...	ORPHA:37042
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Blue sclerae	OMIM:617051
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Orofacial cleft, Microcornea, Nar...	ORPHA:3301
Marshall-Smith Syndrome	Irregular dentition, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, B...	OMIM:602535
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Patent ductus arteriosus, Narrow palpe...	OMIM:619869
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Bruck Syndrome	Kyphosis, Platyspondyly, Scoliosis, Pterygium	ORPHA:2771
Idiopathic Pulmonary Hemosiderosis	Pallor	ORPHA:99931
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Opacification of the corneal stroma	OMIM:601356
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Cardiac condu...	ORPHA:353277
Hereditary Methemoglobinemia	Lip discoloration, Blue sclerae	ORPHA:621
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Sparse hair, Alopecia, Abnormal fingernail morphology	ORPHA:659
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Decreased circulating antib...	ORPHA:79329
Macs Syndrome	Sparse hair, Alopecia, Sparse eyebrow, Scoliosis	OMIM:613075
Ehlers-Danlos Syndrome, Periodontal Type, 1	Alveolar bone loss around teeth, Hiatus hernia, Intestinal perforation, Umbilical hernia, Periodo...	OMIM:130080
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Alopecia	OMIM:600785
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Ruvalcaba Syndrome	Kyphosis, Hypopigmented skin patches, Scoliosis, Abnormal vertebral epiphysis morphology, General...	ORPHA:3121
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Cleft upper lip, Optic atrophy, Cleft palate, Wide mouth, Oligodonti...	OMIM:201180
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Low posterior h...	ORPHA:2916
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Corneal opacity, Keratitis, Kyphosis, Corneal erosion,...	ORPHA:2273
Classic Phenylketonuria	Hypopigmentation of hair, Cataract, Hypopigmentation of the skin	ORPHA:79254
Microphthalmia, Isolated, With Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea	OMIM:615145
Refractory Anemia With Excess Blasts	Anemic pallor, Pedal edema	ORPHA:86839
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity	ORPHA:1064
Cutis Laxa, Autosomal Recessive, Type Iib	Decreased muscle mass, Blue sclerae, High palate, Long philtrum, Intrauterine growth retardation,...	OMIM:612940
Desbuquois Dysplasia 2	Epicanthus, Dental crowding, Short neck, Synophrys, Cleft palate, Blue sclerae, Hypodontia, Long ...	OMIM:615777
Familial Dysautonomia	Corneal opacity, Abnormal pupil morphology, Corneal erosion, Scoliosis, Heterochromia iridis	ORPHA:1764
Tangier Disease	Splenomegaly, Nail dysplasia, Nail dystrophy, Opacification of the corneal stroma	OMIM:205400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Oxoglutaric Aciduria	Skeletal muscle atrophy, Abnormal salivary gland morphology	ORPHA:31
Multiple Epiphyseal Dysplasia, Beighton Type	Retinal thinning, Cataract, Asteroid hyalosis	ORPHA:166011
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Xeroderma Pigmentosum	Conjunctival telangiectasia, Alopecia, Cataract, Hypermelanotic macule, Keratitis, Hypopigmented ...	ORPHA:910
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Celiac Disease, Susceptibility To, 1	Alopecia, Macrocytic anemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level	OMIM:212750
Phace Syndrome	Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root...	ORPHA:42775
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Synophrys, Flexion contracture, Downturned corners of mouth, Widely s...	ORPHA:487796
Shashi-Pena Syndrome	Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervical C2/C3 vertebral f...	OMIM:617190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn...	OMIM:613154
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Skeletal muscle atrophy, Epicanthus, Cleft soft palate, Patent ductus arteriosus, Aortic rupture,...	OMIM:614557
Oculodentodigital Dysplasia	Epicanthus, Cataract, Median cleft lip, Abnormal dental enamel morphology, Premature loss of prim...	ORPHA:2710
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Lacrimal duct stenosis, Carious teeth, Periorbital dermoid cyst, Dental maloccl...	OMIM:615560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Kyphosis, Scoliosis	OMIM:130060
Brachyolmia Type 3	Kyphosis, Platyspondyly, Scoliosis, Short neck	OMIM:113500
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology, Optic atroph...	ORPHA:2715
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Larsen Syndrome	Vertebral fusion, Corneal opacity, Cervical kyphosis, Short nail, Spondylolysis, Scoliosis, Beaki...	OMIM:150250
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation, Camptodactyly	OMIM:619576
Urban-Rogers-Meyer Syndrome	Kyphosis, Increased circulating IgE level, Short neck	ORPHA:3409
Tyrosinemia Type 2	Corneal opacity, Abnormality of the nail	ORPHA:28378
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Blue sclerae, Hig...	OMIM:617137
Crouzon Syndrome	Dental crowding, Keratitis, Optic atrophy, Conjunctivitis, High palate, Shallow orbits, Dysgerminoma	OMIM:123500
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Wolf-Hirschhorn Syndrome	Sclerocornea, Congenital diaphragmatic hernia, Downturned corners of mouth, Short philtrum, Atria...	ORPHA:280
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Upslanted palpebral fissure, Blue sclerae	OMIM:618707
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Multiple cafe-au-lait spots, Patchy alopecia	ORPHA:85279
Mucopolysaccharidosis Type 6	Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Opacification of the corneal stroma	ORPHA:583
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Congestive heart failure, Pedal edema	ORPHA:247353
Waardenburg Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Pre...	ORPHA:3440
Multiple Epiphyseal Dysplasia Type 5	Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Multiple small ve...	ORPHA:93311
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Macroglossia, Bradycardia, Prolonged neonatal jaundice	ORPHA:226307
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Downturned corners of mouth, Blue sclerae,...	OMIM:180860
Osteogenesis Imperfecta, Type Xx	Tented upper lip vermilion, Highly arched eyebrow, Narrow palate, Agenesis of permanent teeth, Bl...	OMIM:618644
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Ectropion of lower eyelids, Knee flexi...	OMIM:614976
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, High palate, Increased intramyocellular lipid droplets, De...	OMIM:220110
X-Linked Charcot-Marie-Tooth Disease Type 2	Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia...	ORPHA:101076
Osteogenesis Imperfecta	Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Flexion contracture, ...	ORPHA:666
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Conj...	OMIM:106260
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Yellow Fever	Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Suprave...	ORPHA:99829
Pediatric Systemic Lupus Erythematosus	Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Hemivertebrae, Abnormal vertebral morphology, Sclerocornea	ORPHA:77298
3-Hydroxy-3-Methylglutaric Aciduria	Pallor, Edema, Dehydration	ORPHA:20
Antiphospholipid Syndrome, Familial	Retinal detachment, Keratitis, Vitritis, Central retinal artery occlusion, Retinal vasculitis, Ir...	OMIM:107320
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Retinal detachment, Epicanthus, Dental crowding, Microcornea, Blue sclerae, Downslan...	OMIM:225400
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Blue sclerae, Long eyelashes, Abnormality of the dentition	OMIM:617952
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Wilson Disease	Back pain, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia	ORPHA:905
Adrenoleukodystrophy	Alopecia, Hyperpigmentation of the skin	OMIM:300100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth horm...	OMIM:129900
Weismann-Netter Syndrome	Anemia, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3344
Trisomy 20P	Thick hair, Highly arched eyebrow, Short neck, Kyphosis, Low anterior hairline, Abnormal form of ...	ORPHA:261318
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth ho...	OMIM:604292
Plague	Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, Skin ulcer, Acute infe...	ORPHA:707
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Tbck-Related Intellectual Disability Syndrome	Thick eyebrow, Corneal opacity, Short neck, Synophrys, Scoliosis, Hirsutism	ORPHA:488632
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Developmental Malformations-Deafness-Dystonia Syndrome	Kyphosis, Cataract, Scoliosis	ORPHA:79107
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Hypophosphatasia, Infantile	Death in infancy, Stillbirth, Blue sclerae, Abnormality of the dentition	OMIM:241500
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Thin skin, Biconcave vertebral bodies, Vertebral compression fracture, Hirsutism	OMIM:219090
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio	OMIM:618880
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Oculoauricular Syndrome	Posterior embryotoxon, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Po...	OMIM:612109
Mixed Connective Tissue Disease	Hemolytic anemia, Alopecia, Splenomegaly, Leukopenia, Keratoconjunctivitis sicca	ORPHA:809
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair, Mottled pigmentation	OMIM:608612
Pelger-Huet Anomaly	Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu...	OMIM:169400
Multiple Benign Circumferential Skin Creases On Limbs	Congestive heart failure, Edema	ORPHA:2505
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocornea, Abnormal an...	ORPHA:2479
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Synophrys, Scoliosis, Thick...	OMIM:618443
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Aplastic anemia, Sparse eyebrow, Neutropenia, Reticular hyper...	ORPHA:2909
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:619525
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Spina bifida, Optic atrophy, Limb hypertonia	ORPHA:99742
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thick eyebrow, Kyphosis, Synophrys, Low anterior hairline, Frontal upsweep of hair, Scoliosis, Hi...	OMIM:617061
Wieacker-Wolff Syndrome	Hyperlordosis, Short neck, Kyphosis, Scoliosis, High anterior hairline	OMIM:314580
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
7Q11.23 Microduplication Syndrome	Thin upper lip vermilion, Atrial septal defect, Short lingual frenulum, Ventricular septal defect...	ORPHA:96121
Insulin-Resistance Syndrome Type B	Alopecia, Increased circulating IgA level, Enlarged polycystic ovaries, Hirsutism, Polycystic ova...	ORPHA:2298
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Thin upper lip vermilion, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Synophrys,...	OMIM:616728
Bartsocas-Papas Syndrome 1	Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Short neck, Absent eyelashes, Popl...	OMIM:263650
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia	ORPHA:412057
Congenital Disorder Of Glycosylation, Type Il	Hepatosplenomegaly, Kyphosis, Polycystic kidney dysplasia, Short neck	OMIM:608776
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Sparse hair, Patchy alopecia, Corneal dystrophy	OMIM:617763
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Pigmentary retinopathy, Ptosis	OMIM:612291
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Splenomegaly, Paronychia, Alopecia of scalp, Impaired T cell function	OMIM:201100
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Letterer-Siwe Disease	Pallor	OMIM:246400
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Splenomegaly, Corneal opacity	OMIM:272200
Warburg Micro Syndrome 2	Cataract, Cryptorchidism, Flexion contracture, Optic atrophy, Developmental cataract, Microcornea	OMIM:614225
Stickler Syndrome	Retinal detachment, Epicanthus, Cataract, Telecanthus, Abnormal dental enamel morphology, Skeleta...	ORPHA:828
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Dysosteosclerosis	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Optic at...	ORPHA:1782
Neutral Lipid Storage Disease With Ichthyosis	Abnormal granulocyte morphology, Alopecia, Subcapsular cataract	ORPHA:98907
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast...	OMIM:312870
Microphthalmia, Lenz Type	Cataract, Hyperlordosis, Kyphosis, Microcornea, Scoliosis, Webbed neck, Iris coloboma	ORPHA:568
Leber Optic Atrophy	Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Myopathy, Leber opti...	OMIM:535000
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Spinal canal stenosis	ORPHA:2323
Cowden Syndrome 1	Cataract, Kyphosis, Decreased circulating antibody level, Ovarian cyst, Scoliosis, Lymphopenia	OMIM:158350
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Blue sclerae	ORPHA:2324
Sarcoidosis, Susceptibility To, 1	Optic neuropathy, Pericardial effusion, Enlarged lacrimal glands, Chorioretinitis, Inflammation o...	OMIM:181000
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, Scoliosis	ORPHA:2181
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Kyphosis, Microcornea, Scoliosis, Sparse hair	OMIM:616449
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Cataract, Abnormality of hair texture, Kyphosis, Vert...	ORPHA:96169
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Osteogenesis Imperfecta, Type V	Blue sclerae, Dentinogenesis imperfecta	OMIM:610967
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Kyphosis, Thrombocytopenia, Splenomegaly, Leukopenia, Increased circ...	ORPHA:77259
Cerebrotendinous Xanthomatosis	Precocious atherosclerosis, Abnormal eyelid morphology, Axonal degeneration, Abnormality of the n...	ORPHA:909
Fountain Syndrome	Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta, Thic...	ORPHA:3219
Peters Plus Syndrome	Short neck, Bicuspid pulmonary valve, Webbed neck, Microcornea, Widely spaced teeth, Spina bifida...	ORPHA:709
Osteogenesis Imperfecta, Type Xix	Blue sclerae, Dentinogenesis imperfecta	OMIM:301014
16Q24.3 Microdeletion Syndrome	Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Astigmatism, Increased mean corpuscular v...	ORPHA:261250
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Abnormality of the oc...	ORPHA:64744
Scheie Syndrome	Splenomegaly, Corneal opacity	ORPHA:93474
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cryptorchidism, Punctate cata...	OMIM:607812
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Johanson-Blizzard Syndrome	Anemia, Alopecia, Abnormal hair pattern	ORPHA:2315
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin	OMIM:618541
Farber Disease	Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica...	ORPHA:333
Leber Congenital Amaurosis 15	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,...	OMIM:613843
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Thin upper lip vermilion, Supernumerary nipple, Abnormality of canine, Sparse eyebrow, Cryptorchi...	ORPHA:477993
Limb-Mammary Syndrome	Alopecia, Absent nipple, Chronic irritative conjunctivitis, Psoriasiform dermatitis, Sparse eyebr...	ORPHA:69085
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Fumarase Deficiency	Ascites, Pallor, Polyhydramnios	OMIM:606812
Doors Syndrome	Double outlet right ventricle, Polyhydramnios, Aspiration pneumonia	ORPHA:79500
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Highly arched eyebrow	OMIM:248340
Cerebrotendinous Xanthomatosis	Optic disc pallor, Cataract, Tendon xanthomatosis, Xanthelasma, Abnormality of central somatosens...	OMIM:213700
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Scoliosis	ORPHA:464282
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Blue sclerae, Intrauterine growth r...	ORPHA:2050
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Low posterior hairlin...	ORPHA:2789
Dyrk1A-Related Intellectual Disability Syndrome	Corneal opacity, Kyphosis, Renal cyst, Astigmatism, Scoliosis, Abnormality of the cervical spine,...	ORPHA:464306
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Arthrogryposis Multiplex Congenita 5	Optic disc pallor, Death in infancy, Short neck, Flexion contracture, Elbow flexion contracture, ...	OMIM:618947
Cockayne Syndrome Type 3	Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Sk...	ORPHA:90324
Schaaf-Yang Syndrome	Kyphosis, Thick eyebrow, Scoliosis	OMIM:615547
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Alopecia totalis, Hyperpigmentation of the skin, Developmental cataract, Anemia,...	ORPHA:221008
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Short neck, Aniridia, Iris coloboma	ORPHA:251038
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Sparse scalp hair, Multicystic kidney dysplas...	OMIM:308205
Retinitis Pigmentosa 74	Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Fryns Syndrome	Multicystic kidney dysplasia, Hypoplastic fingernail, Corneal opacity, Short neck	ORPHA:2059
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Kyphoscoliotic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Epicanthus, Bicuspid aortic valve, Dextrocardia, Synophrys, Microcornea,...	ORPHA:536545
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri...	OMIM:614077
Hypothyroidism, Congenital, Nongoitrous, 2	Macroglossia, Dry skin, Bradycardia	OMIM:218700
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Smith-Mccort Dysplasia 1	Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly...	OMIM:607326
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Epicanthus, Bilateral ptosis, Type 2 muscle fiber predominance, Myopathy...	OMIM:619743
Marinesco-Sjogren Syndrome	Kyphosis, Scoliosis, Developmental cataract	OMIM:248800
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Bone spicule pigmentation of the retina, Cataract, Kyphosis, Pigmentary retinopathy, Scoliosis	ORPHA:88628
Alg1-Cdg	Kyphosis, Scoliosis	ORPHA:79327
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Thin upper lip vermilion, Optic atrophy, High palate, Smooth philtrum, Ptosis	OMIM:609037
Pycnodysostosis	Decreased response to growth hormone stimulation test, Delayed eruption of primary teeth, Persist...	ORPHA:763
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	OMIM:253270
Hereditary Orotic Aciduria	Splenomegaly, Abnormal toenail morphology, Impaired T cell function, Anemia	ORPHA:30
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Roberts-Sc Phocomelia Syndrome	Short neck, Knee flexion contracture, Coloboma, Eyelid coloboma, Blue sclerae, High palate, Shall...	OMIM:268300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Corneal opacity, Kyphosis, Renal cyst, Astigmatism, Scoliosis, Abnormality of the cervical spine	ORPHA:464311
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, Pan...	ORPHA:167
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Low anterior hairline	ORPHA:261222
Cystinosis	Corneal opacity	ORPHA:213
Cockayne Syndrome	Skeletal muscle atrophy, Congenital contracture, Retinal arteriolar constriction, Lentiglobus, Re...	ORPHA:191
Cole-Carpenter Syndrome 2	Downslanted palpebral fissures, Blue sclerae, High palate, Dentinogenesis imperfecta	OMIM:616294
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Transposition of...	OMIM:256520
Pearson Marrow-Pancreas Syndrome	Pallor, Erythema, Hydrops fetalis, Dehydration	OMIM:557000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Orotic Aciduria	Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp...	OMIM:258900
Autosomal Recessive Spastic Paraplegia Type 55	Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tibialis muscle weakness, ...	ORPHA:320375
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Dry skin, Hypotension	ORPHA:428
Ruvalcaba Syndrome	Kyphosis, Scoliosis	OMIM:180870
15Q24 Microdeletion Syndrome	Kyphosis, Broad eyebrow, High anterior hairline, Scoliosis	ORPHA:94065
Subaortic Stenosis-Short Stature Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:3191
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Cardiomegaly, Amyloid deposition in the vitreous humor, Cardiomyopa...	OMIM:105210
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Developmental cataract, ...	ORPHA:2108
Spondyloepiphyseal Dysplasia Congenita	Retinal detachment, Short neck, Pierre-Robin sequence, Cleft palate, Cervical myelopathy, Vitreor...	OMIM:183900
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Silver-Russell Syndrome	Decreased muscle mass, Dental crowding, Cryptorchidism, Downturned corners of mouth, Thin vermili...	ORPHA:813
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters	OMIM:605808
Biotinidase Deficiency	Splenomegaly, Alopecia, Conjunctivitis	OMIM:253260
Polyendocrine-Polyneuropathy Syndrome	Alopecia	ORPHA:453533
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Alpha-Mannosidosis, Infantile Form	Pancytopenia, Cataract, Corneal opacity, Highly arched eyebrow, Short neck, Hepatosplenomegaly, P...	ORPHA:309282
Grant Syndrome	Blue sclerae	OMIM:138930
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cataract, Corneal opacity, Kyphosis, Abnormal pupil morphology, Fine hair, Bup...	ORPHA:534
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes	OMIM:615877
Arboleda-Tham Syndrome	Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corners of mouth, Conjunctivi...	OMIM:616268
Clark-Baraitser syndrome	Kyphosis, Scoliosis	OMIM:300602
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot	ORPHA:364577
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Sparse eyelashes, Abscess, ...	ORPHA:125
19P13.12 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Scoliosis, Generalized hirsutism	ORPHA:254346
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:607155
Cockayne Syndrome Type 2	Hypermelanotic macule, Kyphosis, Developmental cataract, Conjunctivitis, Scoliosis	ORPHA:90322
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Osteopetrosis With Renal Tubular Acidosis	Retinal atrophy, Abnormal retinal morphology, Persistence of primary teeth, Abnormality of the de...	ORPHA:2785
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Developmental glaucoma, Platyspondyly, Scoliosis	OMIM:251450
Wagro Syndrome	Aniridia, Cataract, Corneal opacity	OMIM:612469
Rothmund-Thomson Syndrome Type 2	Aplastic anemia, Alopecia totalis, Hyperpigmentation of the skin, Developmental cataract, Anemia,...	ORPHA:221016
Meckel Syndrome	Encephalocele, Cataract, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the tongue, Scl...	ORPHA:564
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Elsahy-Waters Syndrome	Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, High palate, Megalocornea, Bifid uvu...	OMIM:211380
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Downturned corners of mouth, Blue...	OMIM:264090
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:98795
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Tangier Disease	Corneal opacity, Hepatosplenomegaly, Anemia, Nail dystrophy, Thrombocytopenia	ORPHA:31150
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:2311
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Pigmentary retinopathy, Hypoplasia of the thymus, Opacification of th...	OMIM:214110
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Alopecia, Hyperpigmentation of the skin, Hirsutism, Polycystic ovaries	ORPHA:90795
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Esophageal Atresia	Coloboma, Pallor, Polyhydramnios	ORPHA:1199
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Orofaciodigital Syndrome Type 2	Atrioventricular canal defect, Central retinal vessel vascular tortuosity	ORPHA:2751
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Cataract, Iris hypopigmentation, Abnormality of hair texture, Ky...	OMIM:610443
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Coarctation of aorta, Webbed neck, Mus...	ORPHA:1772
Leprosy	Absent eyebrow, Alopecia, Abnormality of the spleen, Loss of eyelashes, Iritis, Corneal perforati...	ORPHA:548
Aspergillosis	Keratitis, Dacryocystitis, Vitritis, Abnormal esophagus morphology	ORPHA:1163
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,...	ORPHA:158687
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Patent ductus arteriosus, Dilated cardiomyopathy, Optic atrop...	OMIM:610505
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
3M Syndrome	Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis, Thick eyebrow	ORPHA:2616
Ramon Syndrome	Kyphosis, Pigmentary retinopathy, Axenfeld anomaly, Scoliosis, Hypertrichosis	OMIM:266270
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti...	OMIM:614576
Aregenerative Anemia	Pallor	ORPHA:101096
Alström Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Port...	ORPHA:64
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Developmental cataract, Cafe-au-lait...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Fair hair, Alopecia, Hyperlordosis, Kyphosis, Developmental cataract, Cafe-au-lait...	ORPHA:363958
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,...	OMIM:106210
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Kyphosis, Low anterior hairline, Scoliosis	ORPHA:404440
Multiple Pterygium-Malignant Hyperthermia Syndrome	Kyphosis, Hyperconvex fingernails, Fingernail dysplasia, Scoliosis, Webbed neck, Ridged fingernai...	ORPHA:2215
Muenke Syndrome	Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis	ORPHA:171436
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Supernumerary nipple, Kyphosis, Scoliosis, Leukemia	OMIM:619951
Alkaptonuria	Arthropathy, Vertebral fusion, Kyphosis, Arthritis, Limitation of knee mobility, Intervertebral d...	OMIM:203500
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Adenohypophysitis	Pallor	ORPHA:95512
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Partial albinism, Ocular albinism, Melanocytic nevus, Astigma...	ORPHA:79430
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Mucolipidosis Iii Alpha/Beta	Opacification of the corneal stroma, Hyperopic astigmatism, Scoliosis	OMIM:252600
Bardet-Biedl Syndrome 20	Papilledema, Atrial septal defect, Bilateral cryptorchidism, Astigmatism, Retinal vascular tortuo...	OMIM:619471
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i...	ORPHA:892
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis	OMIM:618291
Stuve-Wiedemann Syndrome 1	Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Knee flexion contracture, Pulmo...	OMIM:601559
Pontocerebellar Hypoplasia, Type 17	Kyphosis, Low anterior hairline	OMIM:619909
Bare Lymphocyte Syndrome, Type Ii	Agammaglobulinemia, Cutaneous anergy, Panhypogammaglobulinemia, Neutropenia	OMIM:209920
Stromme Syndrome	Accessory spleen, Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma	OMIM:243605
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Cataract, Corneal opacity, Acute lymphoblastic leukemia, Abnormalit...	ORPHA:1052
Saul-Wilson Syndrome	Intrauterine growth retardation, Cataract, Blue sclerae	OMIM:618150
Craniotubular Dysplasia, Ikegawa Type	Epicanthus, Ventricular septal defect, Optic neuropathy, Thick lower lip vermilion, Optic atrophy...	OMIM:619727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Everte...	OMIM:253280
Kikuchi-Fujimoto Disease	Palpebral edema, Myocarditis, Oral ulcer, Enlargement of parotid gland, Abnormality of the neck	ORPHA:50918
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Thin upper lip vermilion, Skeletal muscle atrophy, Cryptorchidism, Narrow mouth, Thick lower lip ...	OMIM:309590
Zttk Syndrome	Absent gallbladder, Epicanthus, Ventricular septal defect, Abnormality of the dentition, Sparse e...	OMIM:617140
Panhypophysitis	Pallor	ORPHA:95513
Charge Syndrome	Eyelid coloboma, Chorioretinal coloboma, Iris coloboma, Facial palsy, Highly arched eyebrow, Clef...	ORPHA:138
Osteogenesis Imperfecta, Type Xiv	Blue sclerae	OMIM:615066
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Cono-Spondylar Dysplasia	Kyphosis, Short nail, Scoliosis, Short neck	ORPHA:420794
Classic Homocystinuria	Retinal detachment, Abnormality of retinal pigmentation, Cataract, Dental crowding, Ectopia lenti...	ORPHA:394
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Epicanthus, Redundant neck skin, Retinal dystrophy, Supernumerary nipple...	ORPHA:397715
Infection-Related Hemolytic Uremic Syndrome	Pleural empyema, Pallor, Edema, Generalized edema	ORPHA:544482
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, Cataract, Sclerocornea, Short neck	OMIM:614230
Pituitary Apoplexy	Pallor	ORPHA:95613
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis, Thin skin, Ovarian cyst	OMIM:610475
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Cowden Syndrome 5	Kyphosis, Cataract, Scoliosis, Ovarian cyst	OMIM:615108
X-Linked Intellectual Disability, Cabezas Type	Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Scoliosis	ORPHA:85293
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T...	ORPHA:93360
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Synophrys, Prominent protruding coccyx, Prominent coccyx, Sc...	OMIM:300966
Kabuki Syndrome 1	Atrial septal defect, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Highly ar...	OMIM:147920
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis, Psoriasiform dermatitis	OMIM:106300
2Q31.1 Microdeletion Syndrome	Short neck, Hypoplastic toenails, Kyphosis, Synophrys, Abnormal hair morphology, Low anterior hai...	ORPHA:251014
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Broad lateral eyebrow, Epicanthus, Atrial septal defect, Optic nerve hypoplas...	ORPHA:500150
Aicardi Syndrome	Retinal detachment, Cataract, Spina bifida, Cleft upper lip, Hiatus hernia, Chorioretinal lacunae...	OMIM:304050
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis	OMIM:300354
Orofaciodigital Syndrome I	Alopecia, Dry hair, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Sparse hair, Hep...	OMIM:311200
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Irregular vertebral endplat...	ORPHA:3042
Wieacker-Wolff Syndrome, Female-Restricted	Kyphosis, Scoliosis, Short neck	OMIM:301041
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Coarse hair, Scoliosis, Biconcave vertebral bodies	OMIM:130720
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Coarctation of aorta...	ORPHA:672
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Persistence of primary teeth, Carious teeth, Developmental cataract, Retinal calcifi...	ORPHA:93325
Spondylometaphyseal Dysplasia, Pagnamenta Type	Blue sclerae	OMIM:619638
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral b...	OMIM:259770
Prolactinoma	Pallor	ORPHA:2965
Oculoectodermal Syndrome	Supernumerary nipple, Short neck, Hyperpigmented streaks, Microcornea, Astigmatism, Opacification...	OMIM:600268
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Abnormally ossified vertebrae, Cataract, Short neck, Hyperlordosis, ...	ORPHA:800
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Retinoblastoma	Vitritis, Leukocoria, Cleft palate, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, P...	OMIM:180200
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Cowden Syndrome 6	Kyphosis, Cataract, Scoliosis, Ovarian cyst	OMIM:615109
Moebius Syndrome	Breast aplasia, Corneal opacity, Multiple cafe-au-lait spots	ORPHA:570
Osteogenesis Imperfecta, Type Xv	Blue sclerae	OMIM:615220
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Hypoplasia ...	OMIM:619321
Roberts Syndrome	Cataract, Progressive flexion contractures, Cleft upper lip, Short neck, Cryptorchidism, Cleft pa...	ORPHA:3103
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma	OMIM:251290
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Hepatosplenomegaly	OMIM:256540
Distal Triplication 15Q	Kyphosis, Polycystic kidney dysplasia, Corneal dystrophy, Scoliosis	ORPHA:314588
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis	OMIM:277440
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail, Scoliosis, Vertebral hypoplasia	OMIM:308050
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Kyphosis, Thin skin, Scoliosis	OMIM:617602
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
Osteogenesis Imperfecta, Type Iii	Kyphosis, Biconcave vertebral bodies, Scoliosis	OMIM:259420
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Coloboma, Anasarca, Pleural effusion, Ascites	OMIM:618183
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia	OMIM:210210
Phakomatosis Pigmentovascularis	Blue sclerae	ORPHA:2875
Ullrich Congenital Muscular Dystrophy 1	Kyphosis, Scoliosis, Spinal rigidity	OMIM:254090
Lathosterolosis	Abnormal thoracic spine morphology, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, ...	ORPHA:46059
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Mottled pigmentation, Onychogryposis	OMIM:248370
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Hirsutism	ORPHA:189427
Axenfeld-Rieger Syndrome, Type 2	Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae	OMIM:601499
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Sparse eyebrow, Kyphosis, Developmental cataract, Microcornea, Scoliosis	ORPHA:464738
Cdags Syndrome	Sparse eyebrow, Kyphosis, Sparse eyelashes, Sparse scalp hair	OMIM:603116
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,...	OMIM:618213
Vater/Vacterl Association	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gr...	OMIM:192350
Hughes-Stovin Syndrome	Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ...	ORPHA:228116
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis, Thin skin	OMIM:219080
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Ventricular septal defect, Ectopia lentis, Short neck, Flexion contracture...	OMIM:271640
Sillence Syndrome	Flat acetabular roof, Platyspondyly, Scoliosis, Abnormal vertebral morphology, Intervertebral dis...	ORPHA:3168
Orofaciodigital Syndrome Type 1	Alopecia, Brittle hair, Multicystic kidney dysplasia, Pancreatic cysts, Coarse hair, Sparse hair	ORPHA:2750
Cockayne Syndrome B	Dry hair, Abnormal hair morphology, Kyphosis, Splenomegaly, Developmental cataract, Microcornea, ...	OMIM:133540
Hereditary Acrokeratotic Poikiloderma	Hypopigmented skin patches, Keratoconjunctivitis, Nail dystrophy, Opacification of the corneal st...	ORPHA:2907
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Kyphosis, Melanocytic nevus, Scoliosis, Multiple cafe-au-lai...	ORPHA:1969
Orofaciodigital Syndrome Iii	Kyphosis, Hyperconvex nail	OMIM:258850
Osteogenesis Imperfecta, Type X	Pyloric stenosis, Death in childhood, Blue sclerae, Shallow orbits, Dentinogenesis imperfecta	OMIM:613848
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ...	ORPHA:83471
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body, Long eyelashes	OMIM:618476
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Kyphosis, Scoliosis	OMIM:615381
Biotinidase Deficiency	Alopecia, Conjunctivitis	ORPHA:79241
Weaver Syndrome	Deep-set nails, Thin nail, Kyphosis, Fine hair, Melanocytic nevus, Scoliosis, Sparse hair	OMIM:277590
Multiple Pterygium Syndrome, Escobar Variant	Thoracolumbar scoliosis, Short neck, Kyphosis, Neck pterygia, Antecubital pterygium, Fused cervic...	OMIM:265000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatos...	ORPHA:2072
Melioidosis	Abnormal parotid gland morphology, Parotitis	ORPHA:31202
Gaucher Disease	Pancytopenia, Corneal opacity, Splenomegaly, Anemia, Abnormality of skin pigmentation, Increased ...	ORPHA:355
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Loeys-Dietz Syndrome 6	Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration	OMIM:619656
Systemic Sclerosis	Spotty hypopigmentation, Alopecia, Irregular hyperpigmentation, Nail bed telangiectasia	ORPHA:90291
Prader-Willi Syndrome	Hypopigmentation of hair, Kyphosis, Frontal upsweep of hair, Scoliosis, Generalized hypopigmentat...	OMIM:176270
Microphthalmia, Syndromic 3	Vertebral fusion, Cataract, Sclerocornea, Hemivertebrae, Butterfly vertebrae, Vertebral hypoplasia	OMIM:206900
Genitopalatocardiac Syndrome	Kyphosis, Multicystic kidney dysplasia, Scoliosis	ORPHA:2075
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Synophrys, Scoliosis	OMIM:619557
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Astigmatism, Scoliosis	OMIM:618493
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Muir-Torre Syndrome	Adenoma sebaceum, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm	ORPHA:587
Congenital Disorder Of Glycosylation, Type Ia	Kyphosis, Renal cyst, Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:212065
Congenital Disorder Of Deglycosylation 1	Corneal ulceration, Corneal opacity, Scoliosis	OMIM:615273
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ...	ORPHA:71505
Behcet Syndrome	Hypopyon, Patchy alopecia, Iritis	OMIM:109650
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Kyphosis, Platyspondyly, ...	ORPHA:1855
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Scoliosis	ORPHA:364028
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Turner Syndrome Due To Structural X Chromosome Anomalies	Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Numerous co...	ORPHA:99413
Mosaic Monosomy X	Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Numerous co...	ORPHA:99228
Monosomy X	Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Numerous co...	ORPHA:99226
Turner Syndrome	Alopecia, Abnormal fingernail morphology, Short neck, Hypoplastic toenails, Kyphosis, Numerous co...	ORPHA:881
Marden-Walker Syndrome	Kyphosis, Scoliosis, Short neck	OMIM:248700
Acro-Renal-Mandibular Syndrome	Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae	ORPHA:958
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Sparse eyebrow, Kyphosis, Trichiasis, Thin eyebrow	OMIM:609944
Kindler Epidermolysis Bullosa	Corneal opacity, Abnormality of skin pigmentation, Conjunctivitis, Abnormal toenail morphology, A...	ORPHA:2908
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Supernumerary nipple, Short neck, Kyphosis, High anterior hairline, Hypoplasia of the iris, Scoli...	OMIM:619194
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Thanatophoric Dysplasia Type 1	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:1860
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot	OMIM:608670
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Degcags Syndrome	Patent ductus arteriosus, Pallor, Polyhydramnios	OMIM:619488
Kenny-Caffey Syndrome, Type 2	Retinal calcification, Papilledema, Hypoparathyroidism, Developmental cataract	OMIM:127000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Alopecia, Short neck, Los...	ORPHA:2636
Limb Body Wall Complex	Corneal opacity, Abnormality of the vertebral column, Lens subluxation, Progressive congenital sc...	ORPHA:2369
Cockayne Syndrome A	Dry hair, Cataract, Kyphosis, Splenomegaly, Retinal pigment epithelial mottling, Abnormality of s...	OMIM:216400
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt...	OMIM:301040
Osteogenesis Imperfecta, Type Xi	Blue sclerae, Dentinogenesis imperfecta	OMIM:610968
Hyperlysinemia	Pulmonary artery hypoplasia, Recurrent pneumonia	ORPHA:2203
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Diamond-Blackfan Anemia	Pallor, Nonimmune hydrops fetalis	ORPHA:124
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ...	ORPHA:163746
Lathosterolosis	Cataract, Increased mean platelet volume, Lumbosacral meningocele, Acanthocytosis, Schistocytosis...	OMIM:607330
Phakomatosis Pigmentokeratotica	Patchy alopecia, Scoliosis, Melanocytic nevus	ORPHA:2874
Relapsing Polychondritis	Keratitis, Alopecia, Cataract, Conjunctivitis	ORPHA:728
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis, Thin skin	OMIM:610489
Igg4-Related Kidney Disease	Pericarditis, Dacryocystitis, Abnormality of the anterior pituitary, Abnormal aortic morphology, ...	ORPHA:449395
Osteogenesis Imperfecta, Type Xvi	Tooth agenesis, Blue sclerae	OMIM:616229
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Highly arched eyebrow, Kyphosis, Long eyelashes, Scoliosis, T...	OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Scoliosis, Hypertrichosis	OMIM:618050
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Hypertrophic cardiomyopathy, Malabsorption, Blue sclerae, Narrow mouth	OMIM:616539
Spondyloperipheral Dysplasia	Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly	OMIM:271700
Robin Sequence With Cleft Mandible And Limb Anomalies	4-5 metacarpal synostosis, Hip dislocation, Aplasia of the epiglottis, Acetabular dysplasia, Hip ...	OMIM:268305
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Dental crowding, Bicuspid aortic valve, Cleft hard palate, Abnormal pupil morphology, Flexion con...	ORPHA:261552
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Hypopigmentation of hair, Hypopigmentation of the skin, Scoliosis	ORPHA:398069
Osteogenesis Imperfecta, Type Iv	Kyphosis, Biconcave flattened vertebrae, Scoliosis	OMIM:166220
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Fanconi Anemia, Complementation Group E	Anemic pallor	OMIM:600901
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma	OMIM:309801
Progeroid Short Stature With Pigmented Nevi	Thoracic scoliosis, Cataract, Allergic conjunctivitis, Impaired T cell function	OMIM:176690
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Anemic pallor	OMIM:227646
Galloway-Mowat Syndrome 1	Cataract, Hypoplasia of the iris, Small nail, Opacification of the corneal stroma, Hypopigmentati...	OMIM:251300
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Systemic Lupus Erythematosus	Leukopenia, Alopecia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior...	ORPHA:67036
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Achalasia, Ineffective esophageal peristalsis, Aspiration pneumonia, Sinus bradycardia	OMIM:619482
Fanconi Anemia, Complementation Group A	Anemic pallor	OMIM:227650
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Van Den Ende-Gupta Syndrome	Abnormal eyebrow morphology, Sacral dimple, Sclerocornea	OMIM:600920
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Hypoplastic philtrum, Protrudin...	OMIM:309580
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Thick eyebrow, Scoliosis, Hyperlordosis	OMIM:162300
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Kyphosis, Hirsutism	OMIM:617527
Plaa-Associated Neurodevelopmental Disorder	Kyphosis, Hirsutism	ORPHA:521426
Opsismodysplasia	Blue sclerae	ORPHA:2746
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Sparse eyebrow, Kyphosis, Synophrys, Patchy hypo- and hyperpigmentation, Webbed neck	ORPHA:3063
Fanconi Anemia, Complementation Group C	Anemic pallor	OMIM:227645
Mucolipidosis Type Ii	Dry hair, Kyphosis, Splenomegaly, White hair, Hepatosplenomegaly, Fine hair	ORPHA:576
Chronic Graft Versus Host Disease	Alopecia, Pancytopenia, Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Onycholysis...	ORPHA:99921
Aspartylglucosaminuria	Cataract, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Neutropenia,...	OMIM:208400
Multiple Endocrine Neoplasia Type 2	Pallor	ORPHA:653
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Blue sclerae	ORPHA:488627
Familial Osteodysplasia, Anderson Type	Kyphosis, Thick eyebrow, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2769
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck	ORPHA:140
Ring Chromosome 13 Syndrome	Abnormality of skin pigmentation, Alopecia, Cafe-au-lait spot, Short neck	ORPHA:96176
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis, Webbed neck	OMIM:182210
Fraser Syndrome 1	Absent eyebrow, Corneal opacity, Absent eyelashes, Extension of hair growth on temples to lateral...	OMIM:219000
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Alexander Disease	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Hyperpigmented nevi	ORPHA:58
Fryns Syndrome	Short neck, Renal cyst, Small nail, Facial hirsutism, Opacification of the corneal stroma, Polysp...	OMIM:229850
Cryptococcosis	Abnormal retinal morphology, Vitritis, Nuchal rigidity, Abnormal optic nerve morphology, Limb mus...	ORPHA:1546
Wilson Disease	Hemolytic anemia, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia	OMIM:277900
Loeys-Dietz Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Orofacial cleft, Blue sclerae, High palate, Ao...	ORPHA:60030
Cowden Syndrome	Cataract, Enlarged polycystic ovaries, Kyphosis, Hypopigmented skin patches, Melanocytic nevus, S...	ORPHA:201
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Blue sclerae	OMIM:619377
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Thymus hyperplasia, General...	ORPHA:744
Wolf-Hirschhorn Syndrome	Accessory spleen, Vertebral fusion, Sacral dimple, Rieger anomaly, Highly arched eyebrow, Kyphosi...	OMIM:194190
Focal Dermal Hypoplasia	Ridged nail, Hypopigmentation of the skin, Linear hyperpigmentation, Brittle hair, Supernumerary ...	OMIM:305600
Osteogenesis Imperfecta, Type Viii	Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis	OMIM:610915
Monosomy 9Q22.3	Cataract, Kyphosis, Abnormality of the vertebral column, Short neck	ORPHA:77301
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Scoliosis	ORPHA:500055
Coffin-Siris Syndrome 1	Sparse scalp hair, Sacral dimple, Dry hair, Kyphosis, Hypoplastic fifth fingernail, Anonychia, As...	OMIM:135900
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Sparse eyebrow, Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Mend Syndrome	Sacral dimple, Cataract, Kyphosis, Spotty hypopigmentation, Anterior polar cataract	OMIM:300960
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Abnormality of T cell physiology, Psoriasiform dermatitis, Polycystic kidney dysplasia	ORPHA:2237
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Kyphosis, Absent eyebrow, Thin fingernail	ORPHA:85199
Poland Syndrome	Short neck, Kyphosis, Hemivertebrae, Low posterior hairline, Acute leukemia, Vertebral segmentati...	ORPHA:2911
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Flexion contracture, Cleft palate, Blue sclerae, Narrow mouth, Bifid uvula	OMIM:130070
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Lymphopenia	OMIM:619708
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Cataract, Kyphosis, Abnormality of the spleen, Ocular albinism, Spin...	ORPHA:1606
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly of finger, Cra...	ORPHA:284984
Branchiooculofacial Syndrome	Cataract, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Renal cyst, Low posterior ha...	OMIM:113620
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Ectodermal Dysplasia-Skin Fragility Syndrome	Sparse hair, Nail dystrophy, Alopecia universalis	ORPHA:158668
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Aplasia of the epiglottis	OMIM:615948
Occipital Horn Syndrome	Kyphosis, Platyspondyly, Coarse hair, Pili torti	OMIM:304150
Pallister-Killian Syndrome	Sparse scalp hair, Sacral dimple, Cataract, Alopecia, Sparse eyelashes, Kyphoscoliosis, Short nec...	OMIM:601803
Mend Syndrome	Kyphosis, Sacral dimple, Cataract, Spotty hypopigmentation	ORPHA:401973
Orofaciodigital Syndrome Type 14	Aplasia of the epiglottis	ORPHA:434179
Cerebrocostomandibular Syndrome	Kyphosis, Multicystic kidney dysplasia, Webbed neck	ORPHA:1393
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Broad eyebrow	ORPHA:457359
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Aplasia/Hypoplasia o...	ORPHA:3472
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Cataract, Kyphosis, Astigmatism, Breast aplasia, Scoliosis, Iris coloboma	ORPHA:268261
Camurati-Engelmann Disease	Hyperlordosis, Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral column, Scoliosis...	ORPHA:1328
Osteogenesis Imperfecta, Type Vii	Death in infancy, Absent pulmonary artery, Blue sclerae, Long philtrum, Dentinogenesis imperfecta	OMIM:610682
Paget Disease Of Bone 5, Juvenile-Onset	Kyphosis	OMIM:239000
Occipital Horn Syndrome	Thick hair, Kyphosis, Platyspondyly, Coarse hair, Scoliosis	ORPHA:198
Acromegaly	Generalized hyperpigmentation, Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal ...	ORPHA:963
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Somatomammotropinoma	Generalized hyperpigmentation, Abnormal fingernail morphology, Kyphosis, Synophrys, Spinal canal ...	ORPHA:314769
Woodhouse-Sakati Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow	ORPHA:3464
Marden-Walker Syndrome	Kyphosis, Multicystic kidney dysplasia, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2461
Coffin-Lowry Syndrome	Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Hyperconvex fingernails, Coarse hair, Scoliosis...	OMIM:303600
Lowe Oculocerebrorenal Syndrome	Kyphosis, Corneal scarring, Developmental cataract, Platyspondyly, Scoliosis, Dense posterior cor...	OMIM:309000
17Q11 Microdeletion Syndrome	Hypermelanotic macule, Kyphosis, Webbed neck, Abnormality of the vertebral column, Beaking of ver...	ORPHA:97685
Lenz-Majewski Hyperostotic Dwarfism	Hyperconvex fingernails, Kyphosis, Scoliosis, Hypoplastic fingernail	ORPHA:2658
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Abnormal pulmonary valve morphology, Pulmonary artery sling, Flexion contr...	ORPHA:261537
Yunis-Varon Syndrome	Sparse scalp hair, Cataract, Absent nipple, Anterior concavity of thoracic vertebrae, Sclerocorne...	OMIM:216340
Cleidocranial Dysplasia 1	Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	OMIM:119600
Primrose Syndrome	Sparse scalp hair, Absent facial hair, Kyphosis, Synophrys, Irregular vertebral endplates, Poster...	OMIM:259050
Mowat-Wilson Syndrome	Bicuspid aortic valve, Pulmonary artery sling, Patent ductus arteriosus, Flexion contracture, Abn...	ORPHA:2152
Goodpasture Syndrome	Pallor	OMIM:233450
Sotos Syndrome	Sacrococcygeal teratoma, Hypopigmentation of the skin, Cataract, Kyphosis, Sparse anterior scalp ...	ORPHA:821
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Opacification of the corneal stroma	ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Opacification of the corneal stroma	OMIM:615287
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Microphthalmia, Syndromic 6	Microcornea, Sclerocornea	OMIM:607932

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 Rxra

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 Rxra.

No publications found that use IMPC mice or data for Rxra.

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
Rxra^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Rxra^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Rxra^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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