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Gene: Tbx3 MGI:98495

Gene Summary

Name:

T-box 3

Synonyms:

D5Ertd189e

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	Allele	Zyg	Life Stage	P Value
microphthalmia	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina vasculature morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	3.73×10^-05
eye hemorrhage	Tbx3^em1(IMPC)Mbp	HET	Early adult	7.26×10^-06
abnormal spleen morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
decreased locomotor activity	Tbx3^em1(IMPC)Mbp	HET	Early adult	1.72×10^-06
abnormal eye morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
increased circulating alkaline phosphatase level	Tbx3^em1(IMPC)Mbp	HET	Early adult	3.73×10^-06
embryonic lethality prior to organogenesis	Tbx3^em1(IMPC)Mbp	HOM	E9.5	0.00
enlarged spleen	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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Human diseases caused by Tbx3 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 Tbx3 (2 diseases)
Human diseases predicted to be associated with Tbx3 (2476 diseases)

The table below shows human diseases associated to Tbx3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Ulnar-Mammary Syndrome		Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Cryptorch...	ORPHA:3138
Ulnar-Mammary Syndrome		Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450

The table below shows human diseases predicted to be associated to Tbx3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu...	OMIM:611819
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
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
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Muscular Dystrophy, Becker Type	Abnormal EKG, Arrhythmia, Cardiomyopathy	OMIM:300376
Progressive Familial Heart Block, Type Ia	Sudden cardiac death, Left posterior fascicular block, Right bundle branch block, Syncope, Prolon...	OMIM:113900
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Syngnathia	Cleft palate	OMIM:119550
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Atrial Fibrillation, Familial, 11	Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ...	OMIM:614049
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Absent P wave, Sudden cardiac death, First degree atrioventricular block, Atrioventricular block,...	OMIM:310300
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Holt-Oram Syndrome	Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology...	OMIM:142900
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, First degree atrioventricular block, Atrioventricular block, Trip...	ORPHA:392
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio...	OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hand oligodactyly, Hydrops fetalis, Endocardial fibroelastosis, Neonatal death	OMIM:276822
Desminopathy	Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo...	ORPHA:98909
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c...	OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block	ORPHA:85447
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ...	OMIM:610797
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Cardiomyopathy	OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di...	OMIM:603546
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab...	ORPHA:439232
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri...	OMIM:607554
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Pseudoachondroplasia	Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente...	OMIM:177170
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia	OMIM:620265
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1040
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid process, Flared ...	OMIM:184252
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia	OMIM:618453
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, White...	ORPHA:2779
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Right bundle branch block, Reduced left ventricular ejectio...	OMIM:115195
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia	OMIM:310095
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Congenital Myopathy 24	Cardiomyopathy, First degree atrioventricular block	OMIM:617336
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Brugada Syndrome 7	Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Patent ductus arteriosus...	ORPHA:1972
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Metaphyseal widening, Delayed epiphyseal ossification, Short met...	ORPHA:93314
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Abnormal EKG, Pulmonic stenosis	OMIM:178650
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Uvula, Bifid	Bifid uvula	OMIM:192100
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric...	OMIM:601005
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance	ORPHA:2274
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys...	OMIM:620236
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor...	ORPHA:457395
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Patent ductus arteriosus, Hypoplasia of the radius, Aplasia of the 1...	OMIM:617247
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Edema of the dorsum of hands, Femoral bowing, Abnormal...	OMIM:274000
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy...	ORPHA:2141
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ...	ORPHA:99106
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Atelosteogenesis, Type I	Polyhydramnios, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, ...	OMIM:108720
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Danon Disease	Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac...	OMIM:300257
Familial Atrial Fibrillation	Palpitations, Atrial fibrillation, Syncope, Myocardial infarction	ORPHA:334
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Jervell And Lange-Nielsen Syndrome	Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation	ORPHA:90647
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he...	OMIM:620066
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Cryptorch...	ORPHA:3138
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d...	OMIM:605274
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca...	OMIM:618395
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Leiomyoma Of Vulva And Esophagus	Clitoral hypertrophy	OMIM:150700
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Heart block, Cardiomyopathy, Abnormal left ventricular function	ORPHA:98912
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Dystonia 23	Arrhythmia	OMIM:614860
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Prominent superficial veins, Telangiectasia of the skin, A...	ORPHA:75508
Monosodium Glutamate Sensitivity	Palpitations	OMIM:231630
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Shortening of all middle phalanges of the fingers, Ivory epiphyses of the toes, Epiphyseal dyspla...	OMIM:226980
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Low-output conge...	ORPHA:308552
Tukel Syndrome	Syndactyly, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone aplasia, P...	OMIM:609428
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Leber Hereditary Optic Neuropathy	Arrhythmia, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology	ORPHA:2730
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Lyme Disease	Arrhythmia, Atrioventricular block	ORPHA:91546
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A...	ORPHA:65681
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy...	ORPHA:85451
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Congenital Velopharyngeal Incompetence	Velopharyngeal insufficiency, Abnormal palate morphology	ORPHA:2291
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ...	ORPHA:263297
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction	ORPHA:206559
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Breast aplasia, Arachnodactyly	OMIM:612242
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Muscle Filaminopathy	Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, A...	ORPHA:171445
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Neonatal Lupus Erythematosus	Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal elec...	ORPHA:398124
Illum Syndrome	Bradycardia	OMIM:208155
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili...	OMIM:611717
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul...	OMIM:184253
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology	OMIM:259270
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom...	OMIM:255160
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy	ORPHA:1177
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Impaired myocardial contractility, Second degree at...	ORPHA:79102
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration	OMIM:618287
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epiphyses of the p...	OMIM:250460
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate	ORPHA:1074
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block	OMIM:160900
Liebenberg Syndrome	Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur...	OMIM:186550
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Loeffler Endocarditis	Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail...	ORPHA:75566
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal fibula morphology, Aplasia/Hypoplasia of the radius, Abnorm...	ORPHA:1837
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Bicuspid aortic valve, Ventricular septal defect, Abnormal hand morphology, Scleroti...	ORPHA:371428
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular...	OMIM:252600
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Supraventricular arrhythmia	ORPHA:320360
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98855
Brugada Syndrome 4	Shortened QT interval, Syncope, Atrial fibrillation	OMIM:611876
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Acrorenal Syndrome	Hand oligodactyly	OMIM:102520
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic sten...	OMIM:249670
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Arrhythmia	ORPHA:99944
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
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Abnormal heart valve morphology, Tarsal synostosis, Short hallux, Campt...	ORPHA:90652
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Craniosynostosis, Femoral bowing, Nar...	OMIM:616723
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Grange Syndrome	Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s...	ORPHA:79094
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Peripartum Cardiomyopathy	Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card...	ORPHA:563
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri...	ORPHA:98863
Variegate Porphyria	Tachycardia	OMIM:176200
Retinal Capillary Malformation	Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr...	ORPHA:71213
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno...	ORPHA:3266
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad...	OMIM:260660
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Cln3 Disease	T-wave inversion, Bradycardia	ORPHA:228346
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:601214
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Microphthalmia With Limb Anomalies	Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta...	OMIM:206920
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Pes planus, Abnormality of the hand, Abnormality of the upper limb, Clinodactyly of the 5th finge...	ORPHA:521308
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Combined Oxidative Phosphorylation Deficiency 45	Cardiac arrest	OMIM:618951
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Ebstein Malformation Of The Tricuspid Valve	Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Right bundle branch block, C...	ORPHA:1880
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Abnormal morphology of ulna, Low posterior hairline, Abnormal metacarpal ...	ORPHA:2233
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Pseudoachondroplasia	Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Increased laxity of ankles...	ORPHA:750
Heart Block, Congenital	Atrioventricular block, Absent atrioventricular node, Cardiomyopathy, Mitral regurgitation, Atria...	OMIM:234700
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Liddle Syndrome	Hypertension, Arrhythmia, Cerebral ischemia	ORPHA:526
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Polyhydramnios, Aplasia/Hyp...	ORPHA:2256
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Cranioacrofacial Syndrome	Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Cleft Palate, Isolated	Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate	OMIM:119540
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal eyebrow morphology, Absent eyelashes, Bre...	ORPHA:90153
Acromesomelic Dysplasia 4	Broad toe, Short metacarpal, Radial bowing, Rhizomelia, Sandal gap, Prominent deltoid tuberositie...	OMIM:619636
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re...	OMIM:614473
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Tetramelic Monodactyly	Split hand, Oligodactyly	ORPHA:2564
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac...	ORPHA:391646
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Curved middle phalanx of the 4th toe, Arachnodactyly, Patent ductus arteriosus...	ORPHA:276413
Atrial Fibrillation, Familial, 6	Reduced left ventricular ejection fraction, Atrial fibrillation, Elevated left ventricular end-di...	OMIM:612201
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati...	OMIM:218600
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Mucolipidosis Ii Alpha/Beta	Brittle hair, Micrognathia, Metaphyseal widening, Sparse hair, Hepatomegaly, Wide intermamillary ...	OMIM:252500
Kearns-Sayre Syndrome	Cardiomyopathy, Arrhythmia, Third degree atrioventricular block	OMIM:530000
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia	OMIM:605231
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Myocarditis, Metaphyseal chondrodysplasia, Atrioventricu...	ORPHA:93317
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl...	OMIM:614326
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia	OMIM:616516
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric...	ORPHA:26793
Otoonychoperoneal Syndrome	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f...	OMIM:259780
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun...	OMIM:618052
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cardiomyopathy, Arrhythmia, Bradycardia	OMIM:609286
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Cleft Palate-Lateral Synechia Syndrome	Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth	ORPHA:2016
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi...	ORPHA:1307
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Cleft Palate With Or Without Ankyloglossia, X-Linked	Ankyloglossia, Bifid uvula, Cleft palate	OMIM:303400
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Proximal placement of thumb, Polyhydramnios, Absent radius, Hand pol...	OMIM:314390
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Eng-Strom Syndrome	Ventricular septal defect, Camptodactyly of finger, Arthritis, Abnormal cardiac septum morphology...	ORPHA:1937
Adams-Oliver Syndrome 4	Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ...	OMIM:615297
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Glutamine Deficiency, Congenital	Neonatal death, Bradycardia	OMIM:610015
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Cardiomyopathy, Arrhythmia	OMIM:612999
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Sagittal craniosynostosis, Bowing of the legs, Aplasia/Hypoplasia of the p...	OMIM:617063
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Polyhydramnios, Micrognath...	OMIM:300373
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do...	OMIM:617912
Myopathy, X-Linked, With Postural Muscle Atrophy	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:300696
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec...	OMIM:108800
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:310200
Limb-Mammary Syndrome	Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact...	ORPHA:69085
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
46,Xy Sex Reversal 6	Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy...	OMIM:613762
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormality of the wrist,...	ORPHA:2878
Fibrochondrogenesis 1	Hydrops fetalis, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent...	OMIM:228520
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Oligodactyly	ORPHA:2440
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran...	ORPHA:40923
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po...	OMIM:193235
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Mahvash Disease	Palpitations	OMIM:619290
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C...	ORPHA:968
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis, Hyp...	OMIM:615779
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Cardiomyopathy	ORPHA:3222
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Micrognathia, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Ph...	OMIM:268300
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Cardiomyopathy, Familial Hypertrophic, 20	Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation	OMIM:613876
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Glycogen Storage Disease Due To Acid Maltase Deficiency	Transient ischemic attack, Vasculitis, Shortened PR interval, Left ventricular outflow tract obst...	ORPHA:365
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia	ORPHA:157973
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo...	ORPHA:93351
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Idiopathic/Heritable Pulmonary Arterial Hypertension	Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Syncope, Palpit...	ORPHA:422
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block	ORPHA:589821
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Clitoral hypertrophy	OMIM:264270
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bicuspid aortic valve, Absent thumb, Unilateral radial aplasia, Hypoplasi...	OMIM:614900
Microcephaly-Cardiomyopathy Syndrome	Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger	ORPHA:2515
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong...	OMIM:614980
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Lymphangioma, Thrombocytopenia, Pancreatic cys...	ORPHA:464329
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp...	OMIM:540000
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia	ORPHA:2928
Hemochromatosis, Type 2A	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy	OMIM:602390
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:94080
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Short foot, Hypertension, Clinodactyly of the 5th finger, Oligodac...	OMIM:619758
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Myofibrillar Myopathy 10	Prolonged QTc interval, Increased QRS voltage	OMIM:619040
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Patent ductus arteriosus,...	OMIM:617021
Ghosal Hematodiaphyseal Dysplasia	Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn...	ORPHA:1802
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Synophrys, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Low an...	OMIM:610442
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow dislocation, Craniosynostosis, Cr...	ORPHA:2554
Microphthalmia With Limb Anomalies	Micrognathia, Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligoda...	ORPHA:1106
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric...	ORPHA:3093
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten...	ORPHA:1856
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Arrhythmia, Mildly reduced left ventricular ejection fraction	OMIM:618098
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Coproporphyria, Hereditary	Hypertension, Tachycardia	OMIM:121300
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial fibrillation	OMIM:613874
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Talipes, Polyhydramnios, Micrognathia...	OMIM:620351
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Retinal degeneration	OMIM:251700
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Velopharyngeal insufficiency	OMIM:617732
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ...	OMIM:601813
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Upper limb...	OMIM:607323
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morphology	ORPHA:177910
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Micrognathia, Radial devia...	ORPHA:1388
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Myopathy, Distal, Tateyama Type	Palpitations	OMIM:614321
Myotonic Dystrophy 2	Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction	OMIM:602668
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flexion contrac...	OMIM:613870
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Lower limb muscle weakne...	ORPHA:268
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ...	OMIM:614262
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Distal Myopathy, Tateyama Type	Palpitations	ORPHA:488650
Nanophthalmos 2	Microphthalmia	OMIM:609549
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Rhizomelic Chondrodysplasia Punctata, Type 5	Sinus tachycardia	OMIM:616716
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Dextrocardia,...	OMIM:173800
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia	OMIM:601162
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Cherry red spot of the macula	ORPHA:796
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension	OMIM:615474
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Sparse axillary hair, Sparse pubic hair, Aplasia/Hypoplasia of the nipples, 3-...	OMIM:181270
Tetramelic Monodactyly	Split foot, Split hand, Foot monodactyly, Hand monodactyly	OMIM:187510
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Proximal femoral metaphyseal abnormali...	ORPHA:83468
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr...	ORPHA:254361
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormal lym...	ORPHA:543
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Cardiomyopathy, Abnormal atrioventricular conduction	ORPHA:329336
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Enthesitis-Related Juvenile Idiopathic Arthritis	Abnormal metatarsal morphology, Knee osteoarthritis, Abnormal shoulder morphology, Abnormal femor...	ORPHA:85438
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Gaucher Disease Type 2	Cardiac arrest	ORPHA:77260
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia	ORPHA:464453
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar...	OMIM:618150
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori...	ORPHA:324
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Absent thumb, Absent radius, Forearm undergrowth, Vascular dilatation	OMIM:602200
Bullous Lichen Planus	Breast aplasia	ORPHA:33408
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia, Pulmonic stenosis	ORPHA:228410
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Friedreich Ataxia	Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:229300
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Osteoarthritis, Abnormal fibula morphology, Genu valgum, Meta...	ORPHA:85198
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Adams-Oliver Syndrome 6	Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Foot oligoda...	OMIM:616589
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Arrhythmia, Cardiac arrest	ORPHA:168593
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow...	OMIM:602111
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Radioul...	OMIM:212780
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Toe syndactyly, Mesoaxial hand...	OMIM:146510
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Vasculitis, Decr...	OMIM:617718
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar...	ORPHA:429
Desbuquois Syndrome	Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Coxa valga, Elbow dislocatio...	ORPHA:1425
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate	ORPHA:2736
Cap Myopathy	Reduced systolic function, Sinus tachycardia	ORPHA:171881
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty...	ORPHA:2370
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atria...	OMIM:618870
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
8P23.1 Duplication Syndrome	Toe syndactyly, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Kerion Celsi	Lymphadenopathy	ORPHA:499
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Highly ar...	OMIM:216100
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Small hand, Sh...	OMIM:614813
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Proximal placement of thumb, Polyhydramnios, Tetralo...	OMIM:618624
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Mitral regurgitation, Pulmonic stenosis, Aortic valve ste...	ORPHA:3449
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia	ORPHA:85446
16P13.11 Microduplication Syndrome	Pes planus, Arachnodactyly, Ventricular septal defect, Craniosynostosis, Coarctation of aorta, Ha...	ORPHA:261243
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block	OMIM:616479
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Congenital Toxoplasmosis	Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp...	ORPHA:858
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Madelung deformity, Bilateral breast hypoplasia, Hip dysplasia, Limb ...	ORPHA:319675
Omphalocele-Cleft Palate Syndrome, Lethal	Bifid uvula, Cleft palate	OMIM:258320
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Hyperoxaluria, Primary, Type I	Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent claudication	OMIM:259900
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia	OMIM:613327
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocyto...	OMIM:612840
Thrombotic Thrombocytopenic Purpura	Arrhythmia, Myocardial infarction	ORPHA:54057
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F...	OMIM:611040
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,...	OMIM:250220
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Reduced systolic function, Microcytic anemia, Dilated cardiomyopa...	OMIM:618805
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect...	OMIM:113000
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia	OMIM:191830
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Intellectual Developmental Disorder, Autosomal Recessive 73	Pes planus, Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus,...	OMIM:619717
Fetal Minoxidil Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia	ORPHA:1918
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Atrial septa...	ORPHA:97214
Aica-Ribosiduria	Fused labia minora, Clitoral hypertrophy	ORPHA:250977
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Raynaud phenomenon, Retinal hemorrhage, Supraventricular arrhythmia, Lacunar stroke	OMIM:611773
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu...	OMIM:610198
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Incontinentia Pigmenti	Alopecia, Supernumerary nipple, Fine hair, Coarse hair, Breast aplasia, Hypoplastic nipples, Nail...	OMIM:308300
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Hemochromatosis, Type 2B	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cong...	OMIM:613313
Omodysplasia 1	Short humerus, Rhizomelia, Ventricular septal defect, Increased fibular diameter, Micrognathia, L...	OMIM:258315
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Congenital muscular torticollis, Aplastic clavicle, Abnormalit...	ORPHA:2538
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Aplasia/Hypoplasia of the radius, Talipes e...	ORPHA:916
Bardet-Biedl Syndrome 12	Hypogonadism, Hydrometrocolpos, Vaginal atresia	OMIM:615989
Pentasomy X	Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Radiouln...	ORPHA:11
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia	ORPHA:231393
Bardet-Biedl Syndrome 19	Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos...	OMIM:615996
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Carnitine Palmitoyl Transferase 1A Deficiency	Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death	ORPHA:156
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Decreased response to growth hormone stimulation test, Tapered finger, Abnormal to...	ORPHA:268261
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Low posterior hairline, Abnormal pelv...	ORPHA:1803
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Split foot, Split hand, Hand monodactyly	OMIM:183800
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Contractural Arachnodactyly, Congenital	Bicuspid aortic valve, Micrognathia, Knee flexion contracture, Atrial septal defect, Wrist flexio...	OMIM:121050
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Gombo Syndrome	Microphthalmia	OMIM:233270
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Micrognathia, Short thumb, Patent ductus arte...	OMIM:612561
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Splenomegaly, Bruising susceptibility, Thrombocytopenia	ORPHA:721
Intellectual Developmental Disorder, Autosomal Recessive 79	Pes planus, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger...	OMIM:620393
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly, Oligohydramnios	ORPHA:3016
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Short foot, C...	ORPHA:474
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Barber-Say Syndrome	Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Generalized hirsutism, Aplasia/H...	ORPHA:1231
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Mmep Syndrome	Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject...	OMIM:620203
Familial Isolated Hypoparathyroidism	Arrhythmia	ORPHA:2238
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest	ORPHA:49827
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Postaxial ha...	ORPHA:83473
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Pulmonary embolism, Lower l...	ORPHA:90308
Chondrodysplasia, Blomstrand Type	Micromelia, Micrognathia, Polyhydramnios, Fetal ascites, Squared iliac bones, Flared metaphysis, ...	OMIM:215045
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
Familial Multiple Nevi Flammei	Edema, Lower limb asymmetry, Pulmonary embolism, Abnormality of the lower limb, Venous insufficie...	ORPHA:624
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Toe clinodactyly	ORPHA:261120
Arthrogryposis, Distal, Type 1A	Hip contracture, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Ro...	OMIM:108120
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu...	ORPHA:3044
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm...	ORPHA:99826
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Craniofrontonasal Syndrome	Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilateral breast hypoplasia, C...	OMIM:304110
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of...	ORPHA:199306
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276556
Hec Syndrome	Cardiomyopathy, Arrhythmia	ORPHA:2119
Cirrhotic Cardiomyopathy	Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ...	ORPHA:57777
Coffin-Siris Syndrome 11	Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi...	OMIM:618779
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing...	ORPHA:185
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph...	ORPHA:85166
Estrogen Resistance	Breast aplasia, Polycystic ovaries	OMIM:615363
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Epistaxis, Elevated circulating C-reactive protein concentration,...	OMIM:614034
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Spinal Muscular Atrophy, Type I	Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness...	OMIM:253300
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Cat Eye Syndrome	Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef...	OMIM:115470
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars...	OMIM:615222
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Breast aplasia, Generalized hypo...	ORPHA:238468
Camptobrachydactyly	Septate vagina	OMIM:114150
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,...	ORPHA:3404
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Polysyndactyly With Cardiac Malformation	Syndactyly, Ventricular septal defect, Polyhydramnios, Preaxial hand polydactyly, Duplication of ...	OMIM:263630
Leber Optic Atrophy	Arrhythmia	OMIM:535000
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Singleton-Merten Syndrome 2	Arrhythmia, Aortic valve stenosis	OMIM:616298
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, High palate, Cleft palate	OMIM:201550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Retinal dystrophy, Elevated circulating creatine kinase concentration, Inability to walk, Abnorma...	OMIM:613155
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Hereditary Breast And/Or Ovarian Cancer Syndrome	Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm	ORPHA:145
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Cryptorchidism, Radio...	OMIM:194350
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, Clino...	OMIM:224690
Atelosteogenesis, Type Ii	Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ...	OMIM:256050
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma	OMIM:611638
Marbach-Rustad Progeroid Syndrome	Prominent superficial veins, Femur fracture, Micrognathia, Ventricular septal hypertrophy, Right ...	OMIM:619322
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome...	OMIM:609616
Dk1-Cdg	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	ORPHA:91131
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Typhoid	Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest	ORPHA:99745
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne...	ORPHA:2557
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,...	ORPHA:335
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Cryptorchidism, Increased circulating gonadotropin level, Hypoplasia o...	ORPHA:755
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch...	OMIM:251270
Von Willebrand Disease	Abnormal mitral valve morphology, Venous insufficiency, Deviation of finger	ORPHA:903
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Leptospirosis	Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Jaundice, Retinal h...	ORPHA:509
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist...	ORPHA:70591
Mckusick-Kaufman Syndrome	Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ...	OMIM:236700
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Flexion contracture, Tibial bowing, Knee disloca...	OMIM:143095
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the nipples, Aplasia of the pectoralis maj...	ORPHA:2911
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Postorgasmic Illness Syndrome	Hypertension, Palpitations	ORPHA:279947
Mitochondrial Dna Depletion Syndrome 11	Arrhythmia, Dilated cardiomyopathy	OMIM:615084
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Polyhydramnios...	ORPHA:363705
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Partial Atrioventricular Septal Defect	Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus...	ORPHA:1330
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios, Micrognathia, Arthrogryposis multiplex congenita, Nema...	OMIM:615731
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Short thumb, Ab...	ORPHA:401935
Adult Syndrome	Sparse scalp hair, Wide intermamillary distance, Toe syndactyly, Absent nipple, Fair hair, Sparse...	OMIM:103285
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Pes planus, Genu recurvatum, Calcaneovalgus deformity, Mitral valve prolaps...	OMIM:225320
Ring Chromosome 12 Syndrome	Syndactyly, Cryptorchidism, Abnormal 5th finger morphology, Dystrophic toenail, Symphalangism of ...	ORPHA:1439
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia	ORPHA:230839
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Symphala...	ORPHA:2741
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Optic atrophy, Lethargy	OMIM:274270
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276575
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum...	OMIM:620010
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Camptobrachydactyly	Septate vagina	ORPHA:1319
Rett Syndrome	Abnormal T-wave, Prolonged QTc interval	OMIM:312750
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def...	OMIM:600987
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Cryptorchidism, Patellar aplasia, Slender long bone, Breast hypopl...	OMIM:613804
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Cystoid macular degeneration, Macular atrophy, Retinal degeneration	OMIM:267760
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Clinodacty...	ORPHA:251014
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:276621
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of...	ORPHA:2839
Adult Syndrome	Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Fine hair, Split f...	ORPHA:978
Sonoda Syndrome	High axial triradius, Ventricular septal defect	OMIM:270460
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Unilateral microphthalmos, Anemia	OMIM:615085
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope	ORPHA:230
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Complete atrioven...	ORPHA:476126
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations	ORPHA:276580
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Perimembranous ventricular septal defect, Transposition ...	OMIM:617877
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Reduced haptoglobin level	OMIM:612126
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Dextrocardia	Abnormal EKG, T-wave inversion	ORPHA:1666
Roifman Syndrome	Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Singl...	OMIM:616651
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars...	OMIM:601680
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma	OMIM:614497
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sparse facial hair, Sparse axillary hair, Genu valgum, Slender long bones with narrow diaphyses, ...	OMIM:608154
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Buphthalmos, Retinal nonattachm...	OMIM:221900
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Coarctation of aorta, Bilatera...	OMIM:300514
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia, Retinal dysplasia	OMIM:615771
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Hallux valgus, Pes planus, Tricuspid regurgitation, Left ventricular hypert...	ORPHA:230851
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Patent ductus arteriosus, Squared iliac bon...	OMIM:616300
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Jaw claudication, Reduced left ventricular ejection fr...	ORPHA:85443
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Skeletal muscle hypertr...	ORPHA:314795
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Arrhythmia	OMIM:249270
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Familial Isolated Restrictive Cardiomyopathy	Tricuspid regurgitation, Atrial fibrillation, Supraventricular arrhythmia, Abnormal left ventricu...	ORPHA:75249
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ...	OMIM:201000
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Micrognathia, Abnormality of the t...	ORPHA:99330
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting	OMIM:609218
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Refsum Disease, Classic	Cardiomyopathy, Arrhythmia, Congestive heart failure	OMIM:266500
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia	ORPHA:772
Sea-Blue Histiocytosis	Abnormal bleeding, Hepatomegaly, Splenomegaly, Thrombocytopenia, Mediastinal lymphadenopathy, Sea...	ORPHA:158029
Pediatric-Onset Graves Disease	Atrial fibrillation, Congestive heart failure, Hypertension, Palpitations, Sinus tachycardia	ORPHA:525731
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia	ORPHA:57
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia, Mi...	OMIM:200980
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary tra...	ORPHA:79301
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Fractured radius, Polyhydramnios, Decreased fibular diame...	OMIM:616897
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Isolated Succinate-Coq Reductase Deficiency	Abnormal left ventricular function, Noncompaction cardiomyopathy, Hypertrophic cardiomyopathy, Ab...	ORPHA:3208
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Chromosome 5Q12 Deletion Syndrome	Long toe, Ventricular septal defect, Micrognathia, Long fingers, Patent ductus arteriosus, Increa...	OMIM:615668
Hydrops Fetalis	Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph...	ORPHA:1041
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Li-Campeau Syndrome	Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus, Patellar hy...	OMIM:619189
Deafness-Lymphedema-Leukemia Syndrome	Prolonged bleeding time, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acu...	ORPHA:3226
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Heart block, Abnormal foot morphology, Cardiomyopathy,...	ORPHA:773
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations	ORPHA:324575
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca...	ORPHA:466677
Chromosome 2Q37 Deletion Syndrome	Short fourth metatarsal, Short metacarpal, Short toe, Subvalvular aortic stenosis, Arrhythmia, Sh...	OMIM:600430
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Macular atrophy, Optic atrophy, Microphthalmia, Retinopathy	OMIM:616171
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, Right aort...	OMIM:617478
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Congenital diaphragmatic hernia, Arterial tortuosity, Micrognathia, Aortic root a...	OMIM:614437
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Thrombocytopenia, Splenomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Car...	ORPHA:79312
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ...	ORPHA:500
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Prominent superficial veins, Wide cranial sutures, Left atrial enlargement, Li...	OMIM:614008
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Sparse axillary hair, Aplasia/Hypoplasia of the p...	OMIM:613803
Erythermalgia, Primary	Palpitations	OMIM:133020
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Lower limb muscle weakness, Equinovarus deformity, Equinus calcaneus, Co...	ORPHA:746
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Lujo Hemorrhagic Fever	Shock, Elevated circulating C-reactive protein concentration, Excessive bleeding after a venipunc...	ORPHA:319213
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy	OMIM:607685
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Abnormal metatarsal morphology, Flat capital femoral epiphysis, Hip subluxa...	ORPHA:93360
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Ventricular septal defect, Single transverse palmar crease, Microg...	OMIM:618348
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Autoimmune Hypoparathyroidism	Abnormal left ventricular function, Prolonged QT interval, Ventricular arrhythmia	ORPHA:36913
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Abnormal pulmonary valve morphology, Camptodactyly of finger, Congestive heart failure, Flexion c...	ORPHA:1194
Martsolf Syndrome 1	Short metacarpal, Micrognathia, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata...	OMIM:212720
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Joint contracture of the hand,...	OMIM:179613
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Postaxial polydactyly, Tapered finger, Patent ductus arteriosus, Small hand, Hip dislocation, Sho...	OMIM:300968
Congenital Sialidosis Type 2	Abnormal EKG, Telangiectasia	ORPHA:93400
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Ventricular septal defect	OMIM:614876
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu...	ORPHA:3097
Neuropathy, Congenital, With Arthrogryposis Multiplex	Calcaneovalgus deformity, Areflexia of lower limbs, Distal amyotrophy, Hyporeflexia of lower limb...	OMIM:162370
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi...	OMIM:314050
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia, Sy...	ORPHA:3191
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart...	ORPHA:275766
Li-Ghorbani-Weisz-Hubshman Syndrome	Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clinodactyly of the 5th fin...	OMIM:618974
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Ab...	ORPHA:3130
Meier-Gorlin Syndrome 2	Micrognathia, Patellar aplasia, Slender long bone, Camptodactyly, Breast hypoplasia	OMIM:613800
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Broad hallux, Proximal placement of thumb, Ta...	ORPHA:435638
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect	OMIM:235750
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Complete atrioventricular canal defect, Preaxial polydactyly...	OMIM:617925
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced...	ORPHA:980
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal bleeding, Acute myeloid leukemia, Anemia of ...	ORPHA:86839
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula	OMIM:149000
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Apla...	ORPHA:290
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Ventricular septal defect, Hypoplastic right heart, Overlapping toe, Postaxial polydactyly, Micro...	OMIM:618142
Campomelic Dysplasia	Anterior tibial bowing, Polyhydramnios, Micrognathia, Delayed epiphyseal ossification, Patellar h...	OMIM:114290
Phaver Syndrome	Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti...	ORPHA:2876
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hand polydactyly, Cerebral ischemi...	ORPHA:60040
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, ...	ORPHA:507
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Gait disturbance	ORPHA:88619
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Arrhythmia, Dilated cardiomyopathy	ORPHA:352447
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:3386
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Ventricular tachycardia	OMIM:600649
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevate...	ORPHA:340
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy	ORPHA:100083
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept...	ORPHA:231401
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Ritscher-Schinzel Syndrome 1	Syndactyly, Ventricular septal defect, Micrognathia, Missing ribs, Double outlet right ventricle,...	OMIM:220210
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl...	ORPHA:94066
Spondylometaphyseal Dysplasia, Axial	Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration	OMIM:602271
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Elbow dislocation, Metatarsus adductus, Campto...	ORPHA:2804
Moebius Syndrome	Syndactyly, Brachydactyly, Micrognathia, Split hand, Abnormal pelvic girdle bone morphology, Tali...	OMIM:157900
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Leopard Syndrome 1	Bundle branch block, Scapular winging, Limited elbow movement, Missing ribs, Complete atrioventri...	OMIM:151100
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Ol...	OMIM:617604
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Holzgreve Syndrome	Abnormal mesentery morphology, Hand polydactyly, Abnormal morphology of ulna, Abnormal metacarpal...	ORPHA:2167
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th...	ORPHA:2319
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Micrognathia	ORPHA:357175
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Micrognathia, C...	OMIM:619343
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Ventricular septal defect, T...	ORPHA:2008
Botulism	Arrhythmia	ORPHA:1267
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,...	ORPHA:163966
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperpl...	ORPHA:64743
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, Long eyelashes, Camptoda...	OMIM:601353
Noonan Syndrome 8	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Mitral reg...	OMIM:615355
Joubert Syndrome 33	Cone/cone-rod dystrophy, Splenomegaly, Ataxia	OMIM:617767
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi...	ORPHA:3429
Hemochromatosis, Type 1	Cardiomyopathy, Arrhythmia, Congestive heart failure, Telangiectasia	OMIM:235200
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin...	ORPHA:29072
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Prominent fingertip pads, Tachycardia, Tapered finger, 2-3 toe syndactyly, Abnorma...	ORPHA:485405
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal heart ...	OMIM:613390
Auriculoosteodysplasia	Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog...	ORPHA:114
Birk-Barel Syndrome	Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula	OMIM:612292
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive...	ORPHA:94093
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Micrognathia, Cervical C2/C3 vertebral fusion, Congestive heart failur...	ORPHA:444077
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Ulnar bowing, Shortening of all distal phalanges of the fin...	OMIM:619135
Kimura Disease	Lymphadenopathy, Eosinophilia, Follicular hyperplasia	ORPHA:482
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Ataxia	OMIM:278780
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:188
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia	OMIM:255120
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Sandal gap,...	ORPHA:254346
Seckel Syndrome 7	Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh...	OMIM:614851
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Orofaciodigital Syndrome Xix	Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m...	OMIM:620107
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Friedreich Ataxia 2	Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure	OMIM:601992
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Port...	ORPHA:824
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Micrognathia	OMIM:615162
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Alagille Syndrome	Hypoplasia of the ulna, Ventricular septal defect, Telangiectasia of the skin, Micrognathia, Hype...	ORPHA:52
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi...	ORPHA:88
Ventricular Septal Defect 3	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Meconium Aspiration Syndrome	Abnormal heart rate variability, Pulmonary arterial hypertension, Pulmonary insufficiency	ORPHA:70588
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Congenital hip dislocation, Polyhydramnios, Congenital diaphragmatic hernia,...	ORPHA:373
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Wound Botulism	Cardiac arrest	ORPHA:178475
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Edema, Micrognathia, Dilated ...	OMIM:607598
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi...	ORPHA:2438
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Ankle swelling, Edema of the dorsum of hands,...	ORPHA:568051
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Facial hypotonia, Cardi...	ORPHA:97297
Cinca Syndrome	Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, L...	OMIM:607115
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Foodborne Botulism	Arrhythmia	ORPHA:228371
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Rhabdoid Tumor	Hypercalcemia, Thrombocytopenia, Lymphadenopathy, Neoplasm of the liver, Hypertension, Internal h...	ORPHA:69077
Immune-Mediated Necrotizing Myopathy	Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations	ORPHA:206569
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia	ORPHA:90033
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Small hypothenar eminence, Alopecia, Sparse facial hair, Decreased p...	ORPHA:2232
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Kagami-Ogata Syndrome	Ventricular septal defect, Diastasis recti, Polyhydramnios, Coxa valga, Micrognathia, Long finger...	OMIM:608149
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Andersen Cardiodysrhythmic Periodic Paralysis	Micrognathia, Short metatarsal, Short palm, Prominent U wave, Clinodactyly of the 5th finger, Sho...	OMIM:170390
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Pallister-Hall Syndrome	Atrial septal defect, Atrioventricular canal defect, Microretrognathia, Mesoaxial polydactyly, Ra...	ORPHA:672
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Atelosteogenesis, Type Iii	Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d...	OMIM:108721
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger	OMIM:601355
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va...	OMIM:194072
Denys-Drash Syndrome	True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro...	OMIM:194080
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Jackson-Weiss Syndrome	Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti...	ORPHA:1540
Aymé-Gripp Syndrome	Sparse scalp hair, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered finger,...	ORPHA:1272
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valg...	OMIM:620073
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inability to walk, Lymphad...	OMIM:257200
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Abnormal atrioventricular conduction, Supraventricular arrhythmia, M...	ORPHA:280365
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot	OMIM:618506
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Ataxia, Epistaxis, Abnormality of n...	ORPHA:33226
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic...	ORPHA:93267
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Limb ataxia, Gait ataxia, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:616719
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, Micrognathia, Abnormal aor...	ORPHA:2516
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Arachnodactyly, Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Talipes eq...	OMIM:301039
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Postaxial polydactyly, Knee flexion contractu...	OMIM:603387
Pulmonary Arteriovenous Malformation	Transient ischemic attack, Epistaxis, Myocardial infarction, Clubbing, Heart murmur, Telangiectas...	ORPHA:2038
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Ritscher-Schinzel Syndrome 2	Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C...	OMIM:300963
Char Syndrome	Toe syndactyly, Mesoaxial foot polydactyly, Ventricular septal defect, Mesoaxial hand polydactyly...	ORPHA:46627
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnor...	OMIM:618652
Femoral-Facial Syndrome	Short femur, Micrognathia, Cryptorchidism, Abnormal fibula morphology, Coxa vara, Radioulnar syno...	ORPHA:1988
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Cardiomyopathy, Arrhythmia	ORPHA:228305
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Vaginal atresia, Fused labia minora	OMIM:207410
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi...	ORPHA:239
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
X-Linked Intellectual Disability, Hedera Type	Pes planus, Calcaneovalgus deformity, Absent Achilles reflex, Hyporeflexia of upper limbs, Left v...	ORPHA:93952
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Mucopolysaccharidosis Type 3	Cardiomegaly, Avascular necrosis of the capital femoral epiphysis, Flexion contracture, Atriovent...	ORPHA:581
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Wide intermamillary distance, Ulnar deviation of the hand, Bowed humerus, Ulnar bow...	OMIM:620076
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Absent thumb, ...	ORPHA:96097
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Bradycardia	OMIM:617248
Congenital Heart Defects, Multiple Types, 9	Pulmonic stenosis, Left axis deviation	OMIM:620294
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia	ORPHA:171876
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Equinus calcaneus, Micrognathia, Prominent veins on trunk, Knee dislocation, S...	ORPHA:536532
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Complete duplication of thum...	OMIM:600901
X Small Rings	Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Tapered finger, 2-3 toe syndact...	ORPHA:96201
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Cornelia De Lange Syndrome	Toe syndactyly, Ventricular septal defect, Abnormal morphology of ulna, Micromelia, Proximal plac...	ORPHA:199
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Abnormality of the hand, Lymph...	OMIM:301500
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Normosmic Congenital Hypogonadotropic Hypogonadism	Wide intermamillary distance, Cryptorchidism, Breast hypoplasia, Hypoplasia of the ovary, Sparse ...	ORPHA:432
Coxoauricular Syndrome	Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia	ORPHA:1508
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Skeletal muscle atrophy, Micrognathia, Absent radius, Preaxial h...	ORPHA:233
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Rocker bottom foot, Microme...	ORPHA:2616
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Bicuspid aortic valve, Single transverse pal...	OMIM:218330
Cofs Syndrome	Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1466
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Chorioretinal coloboma	OMIM:120433
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca...	ORPHA:93329
Nephrotic Syndrome, Type 11	Arachnodactyly, Ventricular septal defect, Micrognathia, Partial duplication of thumb phalanx, Di...	OMIM:616730
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Short foot	ORPHA:228399
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Increased nuchal translucen...	OMIM:618494
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m...	OMIM:100800
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Carcinoid Syndrome	Tricuspid regurgitation, Right ventricular failure, Heart murmur, Palpitations, Facial telangiect...	ORPHA:100093
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Retinal detachment, Elevated circulating creatine kinase ...	OMIM:615181
Fanconi Anemia, Complementation Group C	Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Flexion contracture, Complet...	OMIM:227645
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Hypertrophic cardiomyopathy, Tachycardia	ORPHA:368
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Toe syndactyly, Ventricular septal defect, Dextrocardia, Bilateral single transverse palmar creas...	OMIM:619657
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu...	OMIM:602875
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Pes planus, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, Abnor...	ORPHA:477817
Ogden Syndrome	Microretrognathia, Torticollis, Ventricular septal defect, Broad hallux, Pulmonary artery stenosi...	ORPHA:276432
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel...	ORPHA:100080
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Retinal detachment, Abnormal vitreous humor morphology, Exudative retinopathy, Exu...	ORPHA:2788
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia	ORPHA:682
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Pes planus, Short metacarpal, Ventricular septal defect, Craniosynostosis, Microgn...	ORPHA:166035
Scalp-Ear-Nipple Syndrome	Sparse hair, Aplasia/Hypoplasia of the nipples, Breast aplasia	ORPHA:2036
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Abnormality of the uterus, Abnormal fallopian tube morphology, Micropenis, Vagina...	ORPHA:1655
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Small hand, Short...	OMIM:617450
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb	OMIM:179270
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa...	ORPHA:381
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of...	ORPHA:1147
Mosaic Trisomy 1	Single transverse palmar crease, Polyhydramnios, Congenital diaphragmatic hernia, Finger clinodac...	ORPHA:1692
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Microphthalmia, Optic atrophy, Chorioretinal coloboma	ORPHA:1473
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Bowing of the long bones, Abnormal pelvis bone morphology, Abn...	ORPHA:249
Isolated Atp Synthase Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	ORPHA:254913
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia ...	ORPHA:75564
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Abnormal heart morphology, Complete duplication of thum...	OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer...	OMIM:603553
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Hepatomegaly, Abnormal morphology of ul...	ORPHA:1328
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Short thumb, Patent ductus arteriosus, Preaxial hand polydactyly, Pa...	OMIM:227646
Pelger-Huet Anomaly	Foot dorsiflexor weakness, Ventricular septal defect, Upper limb undergrowth, Lower limb hyperton...	OMIM:169400
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Joubert Syndrome 18	Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Talip...	OMIM:614815
Stiff-Person Syndrome	Hypertension, Tachycardia	OMIM:184850
Alpha-1-Antitrypsin Deficiency	Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Femoral bowing, Knee flexio...	OMIM:600920
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Uveal Melanoma	Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology	ORPHA:39044
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Patent ductus arteriosus...	OMIM:602782
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic morphol...	ORPHA:1166
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o...	ORPHA:54251
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Vert...	OMIM:268310
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Noonan Syndrome 5	Hypertrophic cardiomyopathy, Arrhythmia, Pulmonic stenosis	OMIM:611553
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Microg...	OMIM:153400
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171300
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Ventricular septal defect, Overlapping toe, Parachute mitral valve, Long fingers, Paten...	OMIM:618316
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy	OMIM:609015
Manitoba Oculotrichoanal Syndrome	Vaginal atresia	OMIM:248450
Woods Syndrome	3-4 finger cutaneous syndactyly, Limited elbow extension, Ventricular septal defect, Single trans...	OMIM:615236
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Equinovarus deformity,...	ORPHA:3078
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste...	OMIM:612526
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Filippi Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cutaneous syndact...	OMIM:272440
Adult-Onset Cervical Dystonia, Dyt23 Type	Supraventricular arrhythmia	ORPHA:420492
Tarp Syndrome	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypopla...	OMIM:311900
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Palmoplantar hy...	OMIM:605676
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Hydrops fet...	OMIM:617022
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Vater/Vacterl Association	Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Patent ductus arteriosus, Hypo...	OMIM:192350
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Talipes, Aplasia/Hypoplasia of the patella	ORPHA:1149
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Trigonocephaly With Short Stature And Developmental Delay	Clinodactyly of the 5th finger, Ventricular septal defect, Sagittal craniosynostosis, Lambdoidal ...	OMIM:314320
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Ventricular septal defect, Foot oligodactyly, Amelia	OMIM:601357
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal pelvic girdle bone morphology...	ORPHA:2097
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia	ORPHA:42
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina	ORPHA:2237
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Lissencephaly 8	Microphthalmia, Optic atrophy, Elevated circulating creatine kinase concentration	OMIM:617255
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension	ORPHA:159
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hepatomegaly, Ataxia...	OMIM:214500
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Rheumatic Fever	Myocarditis, Pericarditis, Epistaxis, Arrhythmia	ORPHA:3099
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Pulmona...	ORPHA:277
Keutel Syndrome	Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect, Short dist...	ORPHA:85202
Ablepharon Macrostomia Syndrome	Absent eyebrow, Toe syndactyly, Camptodactyly of finger, Abnormal hair pattern, Absent eyelashes,...	ORPHA:920
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Joint dislocation, Decreased muscle mass, Joint subluxation, Wrist drop, Muscle fiber atrophy, Co...	ORPHA:1900
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Charge Syndrome	Abnormal palmar dermatoglyphics, Polyhydramnios, Micrognathia, Secundum atrial septal defect, Han...	OMIM:214800
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia	ORPHA:75234
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect, Micrognathia	OMIM:608227
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyl...	OMIM:615503
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os...	OMIM:271640
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Choroidal neovascularization, Congestive heart fail...	OMIM:264800
Microphthalmia, Syndromic 13	Microphthalmia, Chorioretinal coloboma	OMIM:300915
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Rocker bottom foot, Polyhydramnios, Coxa valga, Craniosynostosis, Tali...	OMIM:301056
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Thrombocytopenia, Dysmetria, Supravalvar pulmonary steno...	OMIM:620185
Cartilage-Hair Hypoplasia	Micromelia, Heart block, Metaphyseal chondrodysplasia, Tibial bowing, Short palm, Rhizomelia, Car...	ORPHA:175
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Smooth philtrum	OMIM:614526
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Hemihypertrophy of lower limb, Peripheral arteriovenous f...	ORPHA:90307
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Anterior pituitary hypoplasia, Cryptorchidism, Pat...	ORPHA:464306
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Larsen Syndrome	Vertebral fusion, Short metacarpal, Ventricular septal defect, Spatulate thumbs, Elbow dislocatio...	OMIM:150250
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Vaginal atresia	ORPHA:3301
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Ventricular septal defect, Polydactyly	OMIM:602501
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E...	OMIM:616266
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Short long bone, Short palm, Atrial septal defect, Arrhythmia, Patent foramen o...	OMIM:619184
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Metopic suture patent to nasal root, Fifth finger distal phalanx clino...	ORPHA:3369
Osteogenesis Imperfecta, Type V	Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Wormian bones, A...	OMIM:610967
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta...	OMIM:616331
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Thrombocytopenia, Splenome...	OMIM:230800
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosplenomegaly, Lym...	OMIM:619750
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Stankiewicz-Isidor Syndrome	Ventricular septal defect, Absent thumb, Micrognathia, Short thumb, Patent ductus arteriosus, 2-3...	OMIM:617516
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome...	OMIM:619644
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creatine kinase co...	OMIM:610377
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Patent ductus arteriosus, Ankle clonus, Lambdoidal craniosynostosis, Meto...	OMIM:615398
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Cutis Laxa, Autosomal Recessive, Type Iic	Aortic regurgitation, Pes planus, Prominent superficial veins, Tricuspid regurgitation, Overlappi...	OMIM:617402
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Retinal dysplasia	ORPHA:324416
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Abnormality of iron homeostasis	ORPHA:75563
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
C Syndrome	Short metacarpal, Toe syndactyly, Ventricular septal defect, Micromelia, Micrognathia, Patent duc...	OMIM:211750
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the breasts, Abnormal pelvic girdle bone morpho...	ORPHA:1133
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp...	OMIM:618892
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Microphthalmia, Left ventricular hypertrophy, Elevated circulating creatine k...	OMIM:613153
Chromosome 9P Deletion Syndrome	Long toe, Pes planus, Ventricular septal defect, Sandal gap, Hallux varus, Tapered finger, Microg...	OMIM:158170
Amyloidosis, Familial Visceral	Splenomegaly, Hypertension, Cholestasis, Hepatomegaly	OMIM:105200
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Facial edema, Delayed proximal femoral epiphyseal ossification, Macroglossia, Hand polydactyly, A...	ORPHA:226307
Carney Triad	Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia	ORPHA:139411
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100082
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Abnormality of the liver, Triphalangeal thumb, Clinodact...	ORPHA:84
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Patent ductus arteriosus, Drumstick terminal phalanges, Hypertrophic c...	OMIM:612938
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Retinal c...	ORPHA:790
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Marshall Syndrome	Radial bowing, Coxa valga, Hypoplastic ilia, Micrognathia, Ulnar bowing, Irregular femoral epiphy...	OMIM:154780
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven...	OMIM:300952
Gracile Bone Dysplasia	Asplenia, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites	OMIM:602361
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc...	ORPHA:520
Gapo Syndrome	Hepatomegaly, Alopecia, Sparse eyelashes, Delayed closure of the anterior fontanelle, Micrognathi...	OMIM:230740
Endosteal Hyperostosis, Autosomal Dominant	Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end...	OMIM:144750
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Talipes, Lower limb asymmetry, Venous insufficiency, Congestive heart failure, Upper limb asymmet...	ORPHA:137608
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath...	OMIM:619046
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Lymphedema, Periorbital edema, Cutaneous finger syndactyly, Short palm, Hypoplastic iliac wing, A...	OMIM:235510
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Syncope, ST segment depr...	ORPHA:358
Primary Unilateral Adrenal Hyperplasia	Hypertension, Palpitations, Epistaxis	ORPHA:231580
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Scrub Typhus	Abnormal bleeding, Myocarditis, Splenomegaly, Lymphadenopathy, Hypotension, Lethargy	ORPHA:83317
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Increased muscle lipid content, Abnormality of the calf musculature, Low-output ...	ORPHA:565612
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Duplication Of Urethra	Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch...	ORPHA:237
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteri...	OMIM:306955
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Ventricular septal defect, Edema, Bowing of the legs, Polyhydramnios, Paten...	OMIM:269860
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Micr...	OMIM:605275
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge...	ORPHA:3306
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Nephroblastoma	Aniridia, Hypertension, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Kinsship Syndrome	Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocation, Fibular h...	OMIM:619297
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Chromosome 6Pter-P24 Deletion Syndrome	Broad toe, Ventricular septal defect, Rocker bottom foot, Patent ductus arteriosus, Telangiectasi...	OMIM:612582
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Pleural effusion, Anasarca, Thir...	OMIM:619573
Estrogen Resistance Syndrome	Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le...	ORPHA:785
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hypertrophic cardiomyopathy, Palpitations	OMIM:618250
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Pes planus, Carotid artery dissection, Arachnodactyly, Thoracic aortic a...	OMIM:619656
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Wide intermami...	OMIM:618019
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal morphology of ulna, Abnormal eyelash morphology, Crypto...	ORPHA:1340
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Ventricular septal defect, Camptodactyly of fi...	ORPHA:261344
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Portal hyperte...	ORPHA:465508
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ...	ORPHA:2847
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Optic disc pallor, Hepatomegaly	OMIM:613730
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi...	ORPHA:1427
3C Syndrome	Finger syndactyly, Ventricular septal defect, Abnormal mitral valve morphology, Micrognathia, Mis...	ORPHA:7
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Congestive heart failure, Lymph...	OMIM:615895
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Congestive heart failure, Hip dislocation, Right bundle branch block, As...	OMIM:617403
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Pes planus, Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease, Sl...	ORPHA:329224
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Pulmonary arter...	ORPHA:3342
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen...	OMIM:616564
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Diaphragmatic eventration, Ventricular septal defect, Aortop...	OMIM:620025
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong...	OMIM:616878
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
19P13.3 Microduplication Syndrome	Ventricular septal defect, Micrognathia, Long fingers, Hip dislocation, Hip dysplasia, Pulmonary ...	ORPHA:447980
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Tricuspid regurgitation, Toe syndactyly, Camptodactyly of finger, Proximal pla...	ORPHA:261211
Tularemia	Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopath...	ORPHA:3392
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hy...	ORPHA:247691
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited ...	OMIM:615065
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ...	OMIM:615630
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr...	OMIM:256550
Craniometaphyseal Dysplasia, Autosomal Dominant	Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist...	OMIM:123000
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Osteoarthritis, Trapezoidal distal femoral cond...	OMIM:307800
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho...	ORPHA:500159
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Retinal dystrophy, Macular atrophy, Buphthalmos, Chorioretinal coloboma, Micr...	OMIM:212550
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of the knee, Broad hallux, Ventricular septal defect, Micrognathia, Slender finger, S...	ORPHA:251028
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Ventricular septal defect, Bicuspid aortic valve, Single transverse palmar crease...	OMIM:610759
Microcephaly-Capillary Malformation Syndrome	Brachydactyly, Ventricular septal defect, Atrial septal defect, Clinodactyly, Patent foramen oval...	OMIM:614261
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Robinow Syndrome, Autosomal Recessive 2	Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Long philtrum, Triangular m...	OMIM:618529
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetria, Athetosis, ...	OMIM:617302
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Edema, Polyhydramnios, Patent ductus arterios...	OMIM:607143
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ...	ORPHA:2712
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy...	ORPHA:727
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
3Mc Syndrome	Craniosynostosis, Highly arched eyebrow, Bilateral cryptorchidism, Supernumerary nipple, Hip disl...	ORPHA:293843
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Porphyria, Acute Intermittent	Hypertension, Tachycardia	OMIM:176000
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Talipes, Micromeli...	ORPHA:1908
Genitopalatocardiac Syndrome	Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ...	OMIM:231060
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe...	OMIM:612562
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Aortic Valve Disease 1	Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou...	OMIM:109730
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Craniosynostosis, Patent duct...	OMIM:617506
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Small hand, Talipes equinovarus, Camptodactyly,...	OMIM:619980
Cleidocranial Dysplasia	Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Tapered finger, Abnormal thumb morph...	ORPHA:1452
Verheij Syndrome	Vertebral fusion, Truncus arteriosus, Ventricular septal defect, Hip dislocation, Short 5th finge...	OMIM:615583
Ectodermal Dysplasia With Adrenal Cyst	Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Dermatomyositis	Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Pulmona...	ORPHA:221
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul...	ORPHA:100078
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Kapur-Toriello Syndrome	Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Short thumb,...	OMIM:244300
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Extrahepatic biliary duct atresia, Abnormal pelvic ...	ORPHA:1458
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Cardiomyopathy, Arrhythmia	ORPHA:228308
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Short ribs, Atri...	ORPHA:2519
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Short metacarpal, Aplasia/hypoplasia involving bones of the upper limbs, Alope...	ORPHA:221016
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Ataxia, Dysmetria	ORPHA:48431
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Ventricular septal defect, Patent ductus arteriosus, Short 5th finger, Clinodactyly of the 5th fi...	OMIM:220500
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Cat-Eye Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:195
Larsen Syndrome	Finger syndactyly, Short nail, Large joint dislocations, Craniosynostosis, Cryptorchidism, Access...	ORPHA:503
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fing...	OMIM:616738
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Exudative retinal detachment, Retinal fold, Subretinal fluid	ORPHA:209956
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular...	ORPHA:3385
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Sagittal craniosynostosis, Olig...	OMIM:618027
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Pes planus, Bowing of the long bones, Toe syndactyly, Ventricular septal de...	ORPHA:261330
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Larsen-Like Syndrome	Joint dislocation, Talipes equinovarus, Radial deviation of the 4th finger, Clinodactyly of the 5...	OMIM:608545
Sifrim-Hitz-Weiss Syndrome	Wormian bones, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Flat acetabul...	OMIM:617159
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Macrodactyly, Venous malformation, Lymphedema	OMIM:613089
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mic...	ORPHA:1225
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Fetal Trimethadione Syndrome	Ventricular septal defect, Micrognathia, Transposition of the great arteries, Atrial septal defec...	ORPHA:1913
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia	ORPHA:3220
Insulin-Like Growth Factor I, Resistance To	Ventricular septal defect, Sandal gap, Micrognathia, Small hand, Short foot, Short finger, Radial...	OMIM:270450
Legionnaires Disease	Hyponatremia, Pericarditis, Ataxia, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Lymphadenopat...	ORPHA:549
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly...	OMIM:620113
Stuve-Wiedemann Syndrome 1	Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn...	OMIM:601559
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si...	OMIM:610644
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Pulmonic stenosis,...	ORPHA:2414
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Ventricular septal defec...	ORPHA:505237
Phacoanaphylactic Uveitis	Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore...	ORPHA:209959
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M...	OMIM:253200
Double Outlet Right Ventricle	Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ...	ORPHA:3426
Prune Belly Syndrome	Congenital hip dislocation, Ventricular septal defect, Patent ductus arteriosus, Aplasia of the a...	ORPHA:2970
Tetrasomy 12P	Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ...	ORPHA:884
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, ...	OMIM:608328
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Peritonitis, Vasculitis, Lymphadenopathy, Purpura	ORPHA:343
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Weiss-Kruszka Syndrome	Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Single transverse palm...	OMIM:618619
Oslam Syndrome	Clinodactyly, Radioulnar synostosis, Radial deviation of finger	OMIM:165660
Primary Hyperoxaluria	Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication	ORPHA:416
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit...	ORPHA:79456
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Polyhydramnios, Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Multiple Endocrine Neoplasia, Type Iia	Hypertension, Palpitations	OMIM:171400
Suleiman-El-Hattab Syndrome	Microretrognathia, Ventricular septal defect, Single transverse palmar crease, Polydactyly, Atria...	OMIM:618950
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter	OMIM:616816
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Polyhydramnios, Micrognathia, Flexion contracture, Abnormal aort...	ORPHA:96334
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy	ORPHA:2131
Gm1 Gangliosidosis	Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Patent ductus arter...	ORPHA:354
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Portal hypertension,...	OMIM:278000
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Micronodular cirrhosis, Punctate vasculitis skin...	OMIM:192315
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Pulmonic stenosis, Camptodactyly, Clinodactyly of the 5t...	OMIM:619123
Genetic Recurrent Myoglobinuria	Arrhythmia	ORPHA:99845
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Aase-Smith Syndrome I	Slender finger, Flexion contracture, Ventricular septal defect, Talipes equinovarus	OMIM:147800
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Submucous cleft hard palate	OMIM:609166
Roifman Syndrome	Noncompaction cardiomyopathy, Retinal dystrophy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor, Pulmonary arterial hypertension	OMIM:300887
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom...	OMIM:139090
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart, Micromelia	ORPHA:2772
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi...	OMIM:619762
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Alopecia totalis, Metaphyseal sclerosis, Cryptorchidism, Patellar aplasia, Fing...	ORPHA:221008
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618330
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension	OMIM:263800
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Mosaic Trisomy 16	Syndactyly, Ventricular septal defect, Single transverse palmar crease, Short thumb, Patent ductu...	ORPHA:1708
Short Stature-Micrognathia Syndrome	Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal ...	OMIM:617164
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Decreased testicular size	OMIM:209900
Cardiac-Urogenital Syndrome	Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla...	OMIM:618280
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hyperammonemia	ORPHA:664
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Ventricular septal defect, Single transverse palmar crease, Sandal gap, Tapered...	OMIM:617061
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Metaphyse...	OMIM:600373
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th finger, Atrioventricular...	ORPHA:508498
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Weill-Marchesani Syndrome 1	Ventricular septal defect, Patent ductus arteriosus, Broad palm, Mitral regurgitation, Pulmonic s...	OMIM:277600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn...	OMIM:271665
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom...	OMIM:153670
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Patent ductus arteriosus, Postax...	ORPHA:2473
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Long penis, Clitoral hypertrophy	OMIM:262190
Warburg Micro Syndrome 1	Microphthalmia, Optic atrophy	OMIM:600118
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Three M Syndrome 2	Scapular winging, Slender long bone, Short 5th finger, Prominent calcaneus, Clinodactyly	OMIM:612921
Hydrolethalus	Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Bifid uvula	ORPHA:2189
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Mediastinal lymphadenopathy, Splenome...	ORPHA:91138
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Postaxial hand polydactyly, Hydrops fetalis,...	ORPHA:3378
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Micromelia, Elbow dislo...	ORPHA:99776
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Prolonge...	OMIM:613812
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Vertebral fusion, Ventricular septal defect, Tarsal synostosis, Multiple pterygi...	OMIM:178110
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Single transverse palmar crease, Rhizomelia, Mic...	OMIM:614114
Marfan Syndrome	Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Micrognathia, F...	OMIM:154700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand pol...	OMIM:263520
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Short thumb, Abnorm...	OMIM:263750
Three M Syndrome 3	Clinodactyly of the 5th finger, Slender long bone, Hip dysplasia, Prominent calcaneus	OMIM:614205
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus, Lower limb hy...	OMIM:619995
3Mc Syndrome 1	Conjunctival telangiectasia, Ventricular septal defect, Single interphalangeal crease of fifth fi...	OMIM:257920
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:300998
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Talipes, Congenital diaphragmatic her...	ORPHA:1335
Bohring-Opitz Syndrome	Joint dislocation, Syndactyly, Prominent metopic ridge, Ventricular septal defect, Overlapping to...	OMIM:605039
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Tapered toe, Cardiomegaly, Tapered finger, Long fingers, Abnormal foot morphology, Dila...	OMIM:608836
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Ventricular septal defect, Overlapping toe, Down-sloping shoulders, Tapered finger, Flexion contr...	OMIM:617452
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Chromosome 18Q Deletion Syndrome	Pes planus, Toe syndactyly, Absence of the pulmonary valve, Ventricular septal defect, Proximal p...	OMIM:601808
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir...	ORPHA:1422
Down Syndrome	Single transverse palmar crease, Short palm, Hypoplastic iliac wing, Atrial septal defect, Atriov...	OMIM:190685
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Abnor...	ORPHA:167
Rothmund-Thomson Syndrome	Calcinosis, Hypoplasia of the ulna, Plantar hyperkeratosis, Telangiectasia of the skin, Aplasia/H...	ORPHA:2909
Severe Generalized Junctional Epidermolysis Bullosa	Edema, Abnormal fingertip morphology, Dilated cardiomyopathy, Dehydration, Bradycardia, Mitten de...	ORPHA:79404
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Micrognathia, Calcaneovalgus deformity, Adducted thumb, Flexion contracture, Tali...	ORPHA:562528
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Pes planus, Ventricular septal defect, Rocker ...	ORPHA:163979
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Polyhydramnios, Calcaneovalgus deformity, Neonatal death, Pterygium, Pa...	OMIM:256520
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Ventricular septal defect, Abnormality of the hand, Abnormal foot morphology, Abnorma...	ORPHA:369891
Emanuel Syndrome	Torticollis, Congenital hip dislocation, Ventricular septal defect, Truncus arteriosus, Congenita...	OMIM:609029
Oculodentodigital Dysplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Short hall...	ORPHA:2710
Lymphedema-Distichiasis Syndrome	Arrhythmia	ORPHA:33001
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Ulnar deviation of finger, Mitral valve prolapse, Macr...	ORPHA:3071
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia	OMIM:615665
X-Linked Intellectual Disability, Nascimento Type	Pes cavus, Ventricular septal defect, Overlapping toe, Lower extremity joint dislocation, Patent ...	ORPHA:163956
Milroy Disease	Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Varicose veins, Abn...	ORPHA:79452
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Clinodactyly of the 5th finger, Ventricular septal defect, Dextrocardia	OMIM:618067
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage, Elevated circulating creatine kinase concentration	OMIM:615368
Mgat2-Cdg	Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ...	ORPHA:79329
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Sparse facial hair, Sparse eyelashes, Sparse eyebrow, Hypoplasia of the od...	OMIM:250250
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping fingers, Ventricular septal defect, Single transverse palmar creas...	ORPHA:464738
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Micrognathia, Absent radius, Absent thumb, Bilateral talipes equinovarus	OMIM:614083
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Enlarged Parietal Foramina	Craniosynostosis, Short clavicles, Abnormal cerebral vein morphology, Broad thumb, Venous malform...	ORPHA:60015
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Absent thumb, Short thumb, Short 1st metacarpal, Hypoplasia of the rad...	OMIM:609053
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Neonatal death, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ...	OMIM:618901
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co...	ORPHA:1488
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Ventricular septa...	OMIM:134780
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect	OMIM:617992
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, High palate, Bifid uvula	OMIM:619314
Malignant Hyperthermia Of Anesthesia	Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem...	ORPHA:423
Silver-Russell Syndrome	Decreased muscle mass, Sandal gap, Micrognathia, Lower limb asymmetry, Upper limb asymmetry, Abno...	ORPHA:813
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Retinal dystrophy, Chorioretinal coloboma	ORPHA:231736
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Microphthalmia...	OMIM:152950
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Polyhydramnios, Atrial septal defect...	OMIM:265380
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia	ORPHA:2874
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag...	OMIM:608978
Craniofacioskeletal Syndrome	Pes planus, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic fronta...	OMIM:300712
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy	ORPHA:424019
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Elevated circulating creatine kinase concentration, Retinal degeneration, Abnorma...	OMIM:615249
Becker Nevus Syndrome	Unilateral breast hypoplasia	OMIM:604919
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Warsaw Breakage Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Clinodactyly of t...	OMIM:613398
Yuan-Harel-Lupski Syndrome	Pes planus, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Talipes equinovalgus, A...	OMIM:616652
Burn-Mckeown Syndrome	Ventricular septal defect, Micrognathia, 2-3 toe syndactyly, Atrial septal defect, Hypomimic face	OMIM:608572
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Micrognathia, Facial edema, Lymphedema, Polyhydr...	OMIM:616843
Matthew-Wood Syndrome	Anophthalmia, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Microphthalmia, Ann...	ORPHA:2470
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:1777
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Tibial bowing, Abnormal pelvic girdle bone ...	OMIM:166210
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v...	OMIM:618106
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing ribs, Abnormal...	ORPHA:3186
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Microgna...	OMIM:616894
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Ventricular septal defect, Postaxial polydactyly, Patent ductus arteriosus, Hip dy...	OMIM:614576
Clapo Syndrome	Hemihypertrophy of lower limb, Macrodactyly, Lymphedema, Hemihypertrophy of upper limb, Varicose ...	ORPHA:168984
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation	OMIM:619083
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Boutonneuse Fever	Thrombocytopenia, Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Petechiae	ORPHA:83313
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Ventricular septal defect, Clinodactyly of the 5th finger,...	ORPHA:3255
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, Small hand, Broad palm, Aorti...	OMIM:145420
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis	OMIM:140000
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar...	OMIM:603903
Pierpont Syndrome	Microphthalmia	OMIM:602342
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase concentration, O...	ORPHA:370959
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Hepatomegal...	ORPHA:809
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Lambotte Syndrome	Preaxial foot polydactyly, Ventricular septal defect	OMIM:245552
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Calcaneal epiphyseal stippling, Abnormal ossification involving the fe...	ORPHA:79345
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Ataxia, Portal hypertension, Elevated circulating C-reactive protein ...	OMIM:615688
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Dilated cardiomyopathy	ORPHA:66634
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Abnormal shoulder morphology, Cervica...	ORPHA:2345
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat...	ORPHA:83469
Microphthalmia, Syndromic 9	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arteriosu...	OMIM:601186
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Renal Nutcracker Syndrome	Orthostatic hypotension, Syncope, Tachycardia	ORPHA:71273
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Schilbach-Rott Syndrome	Submucous cleft hard palate, Bifid uvula, Narrow mouth	OMIM:164220
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ...	OMIM:618048
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ventricular septal defect, Patent ductus arteriosus, Short toe, Clinodactyly o...	ORPHA:1519
Castleman Disease	Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio...	ORPHA:160
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Absence of the sacrum, Right atrial isomerism, Ventricular septal def...	OMIM:270100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal...	ORPHA:90795
Myhre Syndrome	Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Pericardial effusion, Patent duct...	OMIM:139210
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnormal retina...	ORPHA:33276
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,...	OMIM:300908
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Optic atrophy, Abno...	ORPHA:899
Focal Dermal Hypoplasia	Finger syndactyly, Toe syndactyly, Ventricular septal defect, Telangiectasia of the skin, Abnorma...	ORPHA:2092
Intellectual Disability, Buenos-Aires Type	Clinodactyly of the 5th finger, Umbilical hernia, Abnormal pelvic girdle bone morphology, Fine hair	ORPHA:3079
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu...	OMIM:612946
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Developmental And Epileptic Encephalopathy 1	Choreoathetosis, Microphthalmia	OMIM:308350
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia	ORPHA:397
Gabriele-De Vries Syndrome	Hallux valgus, Sydney crease, Sandal gap, Craniosynostosis, Micrognathia, Decreased response to g...	ORPHA:506358
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Penoscrotal hypospadias, Hypospadias, Female external genitalia in individual with 46,XY karyotyp...	ORPHA:90791
Agel Amyloidosis	Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction	ORPHA:85448
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Vasculitis, Flexion contracture, Sclerosis of finger...	ORPHA:90289
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Sparse axillary hair, Sparse pubic hair, Gonadotropin deficiency...	ORPHA:52901
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
Loeys-Dietz Syndrome 5	Pes planus, Scapular winging, Decreased muscle mass, Ventricular septal defect, Arachnodactyly, O...	OMIM:615582
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Inte...	OMIM:616920
Aica-Ribosuria Due To Atic Deficiency	Clitoral hypertrophy, Fused labia minora	OMIM:608688
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine c...	OMIM:613179
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li...	ORPHA:1071
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Ventricular septal d...	ORPHA:75389
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, Large hands, Broad thumb, ...	ORPHA:1770
Aregenerative Anemia	Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone m...	ORPHA:101096
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Oligohydramnios, Talipes calcaneovalgus, Dehydration, Hi...	OMIM:208085
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Micrognathia, Dilated...	OMIM:614921
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:71212
Recombinant 8 Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Patel...	ORPHA:96167
Hemihyperplasia-Multiple Lipomatosis Syndrome	Telangiectasia of the skin, Macrodactyly, Abnormal cerebral vascular morphology, 2-4 toe syndacty...	ORPHA:276280
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, 2-3 toe syn...	ORPHA:404440
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Reduced circulating prolactin concentration, Hypoplasia of the ovary, Anterior hypopituitarism, B...	ORPHA:2235
Sézary Syndrome	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Pierson Syndrome	Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu...	OMIM:609049
Noonan Syndrome 4	Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Cubitus valgu...	OMIM:610733
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia	OMIM:273395
Catel-Manzke Syndrome	Joint dislocation, Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, ...	OMIM:616145
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia, Enlarged kidney	OMIM:613885
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cleft h...	OMIM:614701
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Arrhythmia, Congestive heart failure	ORPHA:26791
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Abnormal ossification i...	ORPHA:1190
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista...	OMIM:101200
Cerebellofaciodental Syndrome	Pes planus, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Shortenin...	OMIM:616202
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Felty Syndrome	Hepatomegaly, Pericarditis, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocell...	ORPHA:47612
Cutaneous Mastocytoma	Telangiectasia of the skin, Lymphadenopathy, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Arthrogryposis, Distal, Type 3	Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate	OMIM:114300
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Bowed humerus, Tarsa...	OMIM:272460
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Sagittal craniosynostosis, Patellar subluxati...	OMIM:615879
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol ...	OMIM:210250
Emanuel Syndrome	Congenital hip dislocation, Ventricular septal defect, Truncus arteriosus, Multiple joint contrac...	ORPHA:96170
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Epiphyseal stippling, Abnorm...	OMIM:302960
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Ventricular septal defect, Postaxial polydactyly	OMIM:614424
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Hypertension, Orthostatic hypotension, Tachycardia	OMIM:223900
Hajdu-Cheney Syndrome	Thick eyebrow, Short nail, Micrognathia, Absent frontal sinuses, Cryptorchidism, Patent ductus ar...	OMIM:102500
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Ventricular septal defect, Craniosynostosis, Patent ductus arteriosus, Atrial ...	ORPHA:457193
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Transaldolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial...	OMIM:606003
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,...	ORPHA:98849
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal...	ORPHA:3318
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi...	ORPHA:1112
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy	OMIM:300707
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Prolonged prothrombin time, He...	OMIM:618641
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia	ORPHA:157
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Chand Syndrome	Imperforate hymen	ORPHA:1401
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concen...	ORPHA:50918
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip	OMIM:619122
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia	OMIM:235555
Noonan Syndrome	Abnormal pulmonary valve morphology, Micrognathia, Lymphedema, Pulmonary artery stenosis, Aplasia...	ORPHA:648
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Thick vermilion border, Cleft palate	ORPHA:250999
Maternal Phenylketonuria	Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Clinodactyly, Abnorma...	ORPHA:2209
Seckel Syndrome 9	Ventricular septal defect, Polyhydramnios, Micrognathia, Congenital diaphragmatic hernia, Pulmona...	OMIM:616777
Seckel Syndrome 5	Cryptorchidism, Hypospadias, Clitoral hypertrophy	OMIM:613823
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Congenital Heart Defects And Skeletal Malformations Syndrome	Pes planus, Arachnodactyly, Ventricular septal defect, Sandal gap, Congenital diaphragmatic herni...	OMIM:617602
Autosomal Dominant Progressive External Ophthalmoplegia	Atrial fibrillation, Facial palsy, Edema, Quadriceps muscle weakness, Dilated cardiomyopathy, Rag...	ORPHA:254892
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha...	ORPHA:2751
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Talipes, Single transverse palmar crease, Flexion contracture, Limb un...	ORPHA:79243
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathi...	OMIM:250410
Koolen-De Vries Syndrome	Prominent fingertip pads, Vertebral fusion, Prominent metopic ridge, Ventricular septal defect, B...	OMIM:610443
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Micrognathia, Short thumb, Patent ...	OMIM:164280
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Frank-Ter Haar Syndrome	Bowing of the long bones, Wormian bones, Ventricular septal defect, Delayed cranial suture closur...	OMIM:249420
Retinoblastoma	Vitritis, Retinal calcification, Vitreous hemorrhage, Retinoblastoma, Leukemia	OMIM:180200
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h...	OMIM:613027
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Absent thumb, Hypoplastic ilia, ...	OMIM:105650
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Autosomal Dominant Coarctation Of Aorta	Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Epiphyseal stippling, Abnormal pelvic girdle bone morpho...	OMIM:222765
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Arachnodactyly, Ventricular septal defect, Micrognathia,...	OMIM:309520
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Micromelia, Situs inver...	ORPHA:289
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Ogden Syndrome	Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, M...	OMIM:300855
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st...	OMIM:177850
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Clitoral hypertrophy	ORPHA:96181
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Micrognathia, Pancreatic lym...	OMIM:235255
Teebi-Shaltout Syndrome	Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea...	OMIM:272950
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Small vessel vasculitis, Ascites	ORPHA:36412
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy, Hepatomegaly	OMIM:619053
Norrie Disease	Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp...	OMIM:310600
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Tapered finger, Increased femoral anteversion, S...	OMIM:609460
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres...	ORPHA:210122
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Alg9-Cdg	Micrognathia, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular outflow tr...	ORPHA:79328
Meckel Syndrome, Type 4	Atrial septal defect, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydac...	OMIM:611134
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Methylmalonic acidemia, Microphthalmia, Retinal pigment epithelial mottling	OMIM:614105
Sotos Syndrome	Pes planus, Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arterios...	OMIM:117550
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Prominent interphalangeal jo...	OMIM:614609
Cornelia De Lange Syndrome 1	Ventricular septal defect, Single transverse palmar crease, Micromelia, Proximal placement of thu...	OMIM:122470
Spondylo-Ocular Syndrome	Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Ventricular septal defect, Toe cli...	ORPHA:217346
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Spider hemangioma, Splen...	ORPHA:2137
Myelofibrosis	Splenomegaly, Myeloproliferative disorder, Purpura	OMIM:254450
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Ventricular septal defect, Sandal gap, Tapered finger, Microgn...	ORPHA:193
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Precocious puberty in females, Clitoral hypertrophy, Polycystic...	ORPHA:528
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hype...	OMIM:100300
Steinert Myotonic Dystrophy	Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc...	ORPHA:273
Amish Lethal Microcephaly	Cleft soft palate	ORPHA:99742
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:743
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Vasculitis, Ly...	OMIM:617099
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Optic atrophy, Microcytic anemia	OMIM:612379
Meige Disease	Predominantly lower limb lymphedema, Lymphedema, Facial edema, Edema of the dorsum of hands, Peri...	ORPHA:90186
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper...	OMIM:608670
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen...	ORPHA:2052
Skraban-Deardorff Syndrome	Right aortic arch, Pes cavus, Ventricular septal defect, Micrognathia	OMIM:617616
Oculodentodigital Dysplasia	Clinodactyly, 4-5 finger syndactyly, Hip dislocation, Joint contracture of the 5th finger, Atrial...	OMIM:164200
Loeys-Dietz Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Cardiac arrest, Micrognat...	ORPHA:60030
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect...	OMIM:264480
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Short femur, Cardiomegaly, Talipes equinovarus, Short tibia, Limb hypert...	OMIM:620306
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Patent ductus arteriosus, Split hand, Clubbing, Absent pulmonary arter...	OMIM:600460
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Joint dislocation, Ventricular septal defect, Coarctation of aorta	OMIM:620210
Dysosteosclerosis	Hypoplastic vertebral bodies, Abnormal metaphysis morphology, Ventricular septal defect, Coarse m...	ORPHA:1782
Tyshchenko Syndrome	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Peritonitis, Recurrent tonsillitis, Lymphadenopathy...	ORPHA:2686
Cholera	Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome...	OMIM:251880
Papillorenal Syndrome	Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Elevat...	OMIM:120330
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale, Arthrogryposis multiplex congenita, Talipes equi...	OMIM:614961
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Autosomal Recessive Robinow Syndrome	Micrognathia, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal ...	ORPHA:1507
Gapo Syndrome	Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Early balding, Abnormal pelvic girdle b...	ORPHA:2067
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Donohue Syndrome	Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy	OMIM:246200
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Hamamy Syndrome	Mitral regurgitation, Prolonged QRS complex	OMIM:611174
Proteus Syndrome	Hypertrophy of skin of soles, Venous malformation	OMIM:176920
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Broad toe, Prominent metopic ridge, Skeletal muscle atrophy, Ventricular septal...	ORPHA:488632
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, ...	OMIM:610536
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilateral cleft lip, Unilate...	OMIM:619103
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Serkal Syndrome	Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod...	ORPHA:677
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
Bent Bone Dysplasia Syndrome 1	Clitoral hypertrophy	OMIM:614592
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Hydrops fetalis, Coarct...	ORPHA:268249
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ...	OMIM:117650
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Tapered finger, Polyh...	ORPHA:464311
Caudal Regression Syndrome	Missing ribs, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, H...	ORPHA:3027
Kallmann Syndrome	Cryptorchidism, Breast hypoplasia, Anterior hypopituitarism, Decreased testicular size, Gynecomastia	ORPHA:478
Chromosome 6Q24-Q25 Deletion Syndrome	Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate, Anteriorly placed anu...	OMIM:612863
Fraser Syndrome 1	Hypospadias, Cryptorchidism, Bicornuate uterus, Micropenis, Vaginal atresia, Clitoral hypertrophy	OMIM:219000
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, Polyhydramnios, Coxa vara, Wrist flexion contr...	ORPHA:800
Harrod Syndrome	Abnormal shoulder morphology, Cryptorchidism, Abnormal pelvic girdle bone morphology, Arachnodactyly	ORPHA:2115
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormality of the hand, Ectrodactyly, ...	ORPHA:2273
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Macular atrophy, Microvesicular hepatic ste...	OMIM:619418
Cockayne Syndrome Type 3	Optic disc pallor, Hepatomegaly, Retinal atrophy, Retinal dystrophy, Splenomegaly, Unsteady gait,...	ORPHA:90324
Fanconi Anemia, Complementation Group S	Microphthalmia, Ataxia, Anemia	OMIM:617883
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Keutel Syndrome	Ventricular septal defect, Short hallux, Premature fusion of phalangeal epiphyses, Short thumb, S...	OMIM:245150
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Metatarsus adductus, Calcaneovalgus deformity, Camptodactyly, Joint contracture o...	OMIM:612513
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, High, narrow palate, Submucous cleft hard palate, Cleft palate, Bifid ...	ORPHA:2780
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Ventricular septal defect, Abnormal thumb morphology, Metatarsus adductus, Abnormal right ventric...	ORPHA:500095
Aspartylglucosaminuria	Hepatomegaly, Abnormal morphology of ulna, Splenomegaly, Arthritis, Macroorchidism, Umbilical hernia	ORPHA:93
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Congenital diaphragmatic hernia, Narrow greater sciatic notch, Short palm, Atrial...	OMIM:312870
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Marshall-Smith Syndrome	Distal widening of metacarpals, Coxa vara, Prominent fingertip pads, Clinodactyly of the 5th fing...	OMIM:602535
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Proximal placement of thumb, Micrognathia, Dilated cardiomyopathy, Mit...	ORPHA:261250
Familial Dysautonomia	Hypertension, Orthostatic hypotension, Tachycardia	ORPHA:1764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Retinal dystrophy, Elevated circulating creatine kinase concentration	OMIM:616538
Temtamy Syndrome	Aortic regurgitation, Microphthalmia, Chorioretinal coloboma	OMIM:218340
Kleefstra Syndrome	Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta...	ORPHA:261494
Rift Valley Fever	Abnormal bleeding, Retinitis, Hematemesis, Thrombocytopenia, Jaundice, Retinal hemorrhage, Hepati...	ORPHA:319251
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L...	OMIM:260920
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Ventricular septal defect, Tarsal synostosis, Congenital diaphragmatic hernia,...	OMIM:157800
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:619909
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Finger clinodactyly, Cli...	ORPHA:508488
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Inability to walk, Retinal coloboma, Gait disturbance, Difficulty walking, Microphthalmia	OMIM:618571
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predom...	OMIM:619542
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, Atrial septal def...	OMIM:616449
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Ascites, G...	ORPHA:77259
Renal Agenesis	Hypertension, Ventricular septal defect, Talipes equinovarus, Oligohydramnios	ORPHA:411709
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Occipital Horn Syndrome	Venous insufficiency, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the ...	ORPHA:198
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Cleft soft palate, Smooth philtrum	ORPHA:293725
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Hypopigmentation of the fundus	ORPHA:163649
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	ORPHA:158048
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization...	ORPHA:91500
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Vaginal atresia	OMIM:617088
Livedoid Vasculopathy	Enlargement of the ankles, Telangiectasia of the skin, Abnormal capillary morphology, Venous insu...	ORPHA:542643
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
De Barsy Syndrome	Decreased muscle mass, Congenital hip dislocation, Ventricular septal defect, Delayed closure of ...	ORPHA:2962
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Stickler Syndrome, Type I	Submucous cleft hard palate, Bifid uvula, Cleft palate, Pierre-Robin sequence	OMIM:108300
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Pulmon...	ORPHA:974
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Atrial se...	OMIM:613795
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Biotinidase Deficiency	Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Hyperammonemia, Lethargy	OMIM:253260
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Myoclonic-Astatic Epilepsy	Microphthalmia, Unsteady gait, Ataxia	ORPHA:1942
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Retinal detachment, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, O...	OMIM:253800
Native American Myopathy	Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula	ORPHA:168572
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Ring Chromosome 10 Syndrome	Microphthalmia, Hypocalcemia	ORPHA:1438
Incontinentia Pigmenti	Retinal detachment, Telangiectasia of the skin, Abnormal chorioretinal morphology, Eosinophilia, ...	ORPHA:464
Joubert Syndrome 37	Microphthalmia, Hepatomegaly	OMIM:619185
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:79126
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Prominent metopic ridge, Vertebrobasilar dolichoectasia, Tapered finger, Long fingers, Calcaneova...	ORPHA:521445
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Currarino Syndrome	Bicornuate uterus, Rectovaginal fistula, Septate vagina	OMIM:176450
Fanconi Anemia, Complementation Group N	Short thumb, Ventricular septal defect	OMIM:610832
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Retinal dystrophy, Chorioretinal coloboma	ORPHA:139471
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arrhythmia	ORPHA:163746
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:199241
Linear Skin Defects With Multiple Congenital Anomalies 1	Atrial septal defect, Overriding aorta, Ventricular septal defect, Single transverse palmar creas...	OMIM:309801
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Polyhydramnios, Micrognathia, Short ...	OMIM:216340
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase...	ORPHA:90041
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Raynaud phenomenon...	OMIM:615934
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Ventricular septal defect, Polyhydramnios, Camptodactyly, Atrial septal defect, Clinodactyly	OMIM:617360
Thauvin-Robinet-Faivre Syndrome	Pes planus, Ventricular septal defect, Bowing of the legs, Pedal edema, Mitral valve prolapse, Va...	OMIM:617107
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Chime Syndrome	Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi...	ORPHA:3474
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Congestive heart failu...	OMIM:615512
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Microphthalmia, Macular coloboma	OMIM:615145
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Cardiomyopathy, Arrhythmia, Reduced left ventricular ejection fraction, Pulmonary arterial hypert...	ORPHA:258
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou...	OMIM:300990
Menkes Disease	Gastrointestinal hemorrhage, Bowing of the long bones, Tarsal synostosis, Micrognathia, Venous in...	ORPHA:565
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Ventricular septal defect, Bifid distal phal...	ORPHA:97360
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Chromosome 16P13.3 Duplication Syndrome	Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Sanda...	OMIM:613458
Phelan-Mcdermid Syndrome	Ventricular septal defect, Palpebral edema, Micrognathia, Lymphedema, Patent ductus arteriosus, 2...	OMIM:606232
Beck-Fahrner Syndrome	Pes planus, Facial hypotonia, Ventricular septal defect, Cardiomegaly, Hip dysplasia	OMIM:618798
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Fanconi Anemia, Complementation Group R	Microphthalmia, Bone marrow hypocellularity, Anemia	OMIM:617244
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Eclabion, Thin upper lip vermilion, Cleft soft palate, High, narrow palate, Deep philtrum, Cleft ...	OMIM:619950
Adams-Oliver Syndrome 2	Microphthalmia, Optic atrophy	OMIM:614219
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Talipes calcaneovalgus, Hip dysplasia, Arthrogryposis multiplex congen...	OMIM:613404
Glomuvenous Malformation	Abnormality of the lower limb, Gastrointestinal arteriovenous malformation, Abnormality of the up...	ORPHA:83454
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Hypoplastic left heart, Transposition of the great arter...	ORPHA:1727
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Overlapping toe, Polyhydramnios, Patent ductus arteriosus, Hip disloca...	OMIM:618268
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Diabetic Embryopathy	Ventricular septal defect, Micrognathia, Aplasia/Hypoplasia of the abdominal wall musculature, Ab...	ORPHA:1926
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, In...	OMIM:608885
Familial Mediterranean Fever	Pericarditis, Vasculitis, Arrhythmia, Myocardial infarction	ORPHA:342
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Toe syndactyly, Mitral atresia, Pulmonary artery stenosis, Hypoplasia of th...	ORPHA:140952
Q Fever	Hepatomegaly, Pericarditis, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Hepatitis, H...	ORPHA:781
Warburg Micro Syndrome 4	Inability to walk, Microphthalmia, Optic atrophy	OMIM:615663
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arteriosu...	OMIM:618454
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardio...	OMIM:616084
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p...	OMIM:304790
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Chorioretinal coloboma	OMIM:243310
Radio-Tartaglia Syndrome	Pes planus, Ventricular septal defect, Micrognathia, Tapered finger, Pes cavus, Brachydactyly	OMIM:619312
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Palmoplantar keratoderma, Ventricular septal defect, 2-3 toe syndactyly	OMIM:106260
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Noonan Syndrome 1	Ventricular septal defect, Micrognathia, Lymphedema, Patent ductus arteriosus, Clinodactyly, Syno...	OMIM:163950
Kawasaki Disease	Pericarditis, Myocarditis, Congestive heart failure, Vasculitis, Arrhythmia	ORPHA:2331
Orofaciodigital Syndrome V	Ventricular septal defect, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:174300
Cockayne Syndrome	Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Hepat...	ORPHA:191
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Lymphadenopathy, Acute leuk...	ORPHA:99812
Pagod Syndrome	Arrhythmia, Sudden cardiac death	ORPHA:991
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal...	ORPHA:71493
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Pulmonic stenosis, Pulmonary arterial hypert...	OMIM:616028
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit...	ORPHA:1054
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Focal Dermal Hypoplasia	Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa...	OMIM:305600
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid...	ORPHA:567983
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Phthisis bulbi, Chorioretinal...	OMIM:612109
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta	ORPHA:1923
Tyrosinemia, Type I	Hypertyrosinemia, Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating alpha-fetoprote...	OMIM:276700
Niemann-Pick Disease, Type C1	Hepatomegaly, Ataxia, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait ataxia, Sea-blue ...	OMIM:257220
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Optic atrophy, Chorioretinal coloboma	ORPHA:494344
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Persistent open anterior fontanelle, Tricuspid regurgitation, Ventricular s...	OMIM:614866
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate	OMIM:619680
Graft Versus Host Disease	Tachycardia, Jaundice, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Hemophagocytosis, ...	ORPHA:39812
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios, Abnormal retinal art...	ORPHA:51608
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Single transverse palmar crease, Polyhydramnios, Mi...	OMIM:180849
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Micrognathia	ORPHA:398156
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma...	ORPHA:1572
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Costello Syndrome	Hyperextensibility of the finger joints, Ventricular septal defect, Limited elbow movement, Micro...	OMIM:218040
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Papilledema, Retinal calcification, Hyperphosphatemia, Hypocalcemia, ...	OMIM:127000
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Camptodactyly of toe	ORPHA:251038
Alagille Syndrome 1	Hypoplasia of the ulna, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery ste...	OMIM:118450
Kid Syndrome	Coxa valga, Equinus calcaneus, Patellar hypoplasia, Knee flexion contracture, Arthritis, Palmopla...	ORPHA:477
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Ventricular septal defect, Congenital diaphragmatic hernia, 3-4 finger cutaneous synd...	OMIM:612530
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, P...	ORPHA:117
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Monosomy 18P	Microphthalmia, Hypertension	ORPHA:1598
Stromme Syndrome	Retinal vascular tortuosity, Microphthalmia, Optic nerve hypoplasia, Accessory spleen	OMIM:243605
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Broad hallux, Sandal gap, Patent ductus arteriosus, 2-3 ...	OMIM:300166
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Chops Syndrome	Ventricular septal defect, Patent ductus arteriosus, Anomalous pulmonary venous return, Cervical ...	OMIM:616368
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of ...	ORPHA:97289
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Hypert...	OMIM:232220
Distal 22Q11.2 Microduplication Syndrome	Tricuspid regurgitation, Ventricular septal defect, Toe syndactyly, Camptodactyly of finger, Tape...	ORPHA:261337
Mucopolysaccharidosis Type 2, Severe Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217085
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Sagittal craniosynostosis, Left unilambdoid synostosis...	OMIM:609942
Peroxisome Biogenesis Disorder 1A (Zellweger)	Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crease, Rocker b...	OMIM:214100
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Micrognathia, Atrial septal defect, Patent foramen ovale, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Micrognathia, Atrial septal defect, Patent foramen ovale, ...	ORPHA:353277
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Ventricular septal defect, Pes planus, T...	ORPHA:2308
Warburg Micro Syndrome 3	Inability to walk, Microphthalmia, Optic atrophy	OMIM:614222
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve	OMIM:617751
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ...	ORPHA:85167
Treacher Collins Syndrome 1	Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth	OMIM:154500
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Hepatosplenomegaly, Lymphadeno...	ORPHA:333
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, Ventricular septal defect, Small hand, 2-3 toe syndactyly, Short foot, Oligohydramnios	OMIM:619229
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Ventricular septal defect	OMIM:214300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Asplenia, Inability to walk, Optic atrophy, Hyphema, Retinal coloboma, Pulmonic...	ORPHA:261552
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Congenital hip dislocation, Ventricular septal defect, Bicuspid ...	ORPHA:457279
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Fl...	ORPHA:217093
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Polyhydramnios, Congenital diaphragmatic hernia, Talip...	ORPHA:818
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Distal Deletion 19P	Long toe, Arachnodactyly, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve at...	ORPHA:96129
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Ventricular septal defect, Mitral stenosis, ...	ORPHA:955
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equino...	ORPHA:522077
Fryns Syndrome	Microretrognathia, Prominent fingertip pads, Ventricular septal defect, Single transverse palmar ...	OMIM:229850
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Talipes calc...	OMIM:270400
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:100075
Arboleda-Tham Syndrome	Secundum atrial septal defect, Atrial septal defect, Genu varum, Microretrognathia, Short hallux,...	OMIM:616268
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Broad hallux, Ventricular septal defect, 1-2 toe syndactyly, Tapered finger, Talipes, Congenital ...	OMIM:301044
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Broad hallux, A...	ORPHA:353281
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Pes planus, Bicus...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Prominent fingertip pads, Anomaly of lower limb diaphyses, Pes planus, Bicus...	ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat...	OMIM:300967
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Optic atrophy, Pigmentary retinopathy, Ataxia	OMIM:610651
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Pu...	OMIM:620233
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Talipes, Craniosynosto...	ORPHA:453499
Myhre Syndrome	Submucous cleft hard palate, Cleft palate, Gingival cleft, Abnormal lip morphology, Thin vermilio...	ORPHA:2588
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Long fingers, Coronary ...	OMIM:614294
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect, Micrognathia	ORPHA:452
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Ventricular septal defect, Micrognathia	OMIM:613680
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Pulmonic stenosis	OMIM:618914
Trisomy 18	Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic h...	ORPHA:3380
Wiskott-Aldrich Syndrome	Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In...	ORPHA:906
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Venous malformation, Lower limb asymmetry	OMIM:612918
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Tapered finger, Coxa valga, Absent frontal sinuses, Macroglossia, Peri...	OMIM:301040
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:610338
Hydrolethalus Syndrome 1	Ventricular septal defect, Polyhydramnios, Micrognathia, Preaxial hand polydactyly, Complete atri...	OMIM:236680
Tetraamelia Syndrome 2	Microretrognathia, Ventricular septal defect, Hypoplastic pulmonary veins, Micrognathia, Amelia	OMIM:618021
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Pes planus, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventri...	ORPHA:466791
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Limb Body Wall Complex	Duplication of hand bones, Ventricular septal defect, Broad hallux, Aplasia/hypoplasia involving ...	ORPHA:2369
Xeroderma Pigmentosum, Complementation Group D	Ataxia, Telangiectasia, Choreoathetosis, Microphthalmia, Corneal neovascularization	OMIM:278730
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Right ventricular f...	ORPHA:97287
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Ventricular septal defect, Single transverse palmar crease, Long palm...	OMIM:244450
Meckel Syndrome	Accessory spleen, Anophthalmia, Abnormal chorioretinal morphology, Pancreatic fibrosis, Asplenia,...	ORPHA:564
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Subdural hemorrhage, Retinal hemorrhage, Ataxia	ORPHA:25
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imperforate hymen	OMIM:619522
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia, Purpura	ORPHA:293173
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating...	OMIM:300972
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Talipes equinovarus, Atria...	ORPHA:261236
17Q24.2 Microdeletion Syndrome	Prolonged QT interval, Pulmonic stenosis	ORPHA:529962
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Elevated circulating creatine kinase...	OMIM:236670
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per...	OMIM:263200
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Retinopathy, Congestive heart failure	ORPHA:2505
Micro Syndrome	Microphthalmia, Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation	ORPHA:2510
Drug Reaction With Eosinophilia And Systemic Symptoms	Cardiac arrest, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Lymphocytosis	ORPHA:139402
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ...	ORPHA:32960
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Nonimmune hydrops fetalis, Absent thumb, Microg...	ORPHA:124
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal bleeding, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, A...	ORPHA:77293
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Desmosterolosis	Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula	ORPHA:35107
Isolated Biliary Atresia	Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Ambiguous genitalia, Clitoral hypertrophy	ORPHA:543470
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate	ORPHA:2282
Oculocerebrofacial Syndrome, Kaufman Type	Clitoral hypertrophy	ORPHA:2707
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:619769
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Deep palmar crease, Pulmonic ste...	OMIM:607721
Degcags Syndrome	Polyhydramnios, Micrognathia, Atrial septal defect, Diaphragmatic eventration, Patent foramen ova...	OMIM:619488
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Orofaciodigital Syndrome Type 4	Median cleft lip, Abnormal oral mucosa morphology, High, narrow palate, Abnormality of the gingiv...	ORPHA:2753
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Ventricular septal defect, Long foot, Broad 2nd toe, Clinod...	OMIM:280000
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, O...	OMIM:192430
7Q11.23 Microduplication Syndrome	Pes planus, Ventricular septal defect, Single transverse palmar crease, Craniosynostosis, Microgn...	ORPHA:96121
Marden-Walker Syndrome	Skeletal muscle atrophy, Arachnodactyly, Ventricular septal defect, Dextrocardia, Camptodactyly o...	ORPHA:2461
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Reynolds Syndrome	Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice...	OMIM:613471
Zellweger Syndrome	Cryptorchidism, Hypospadias, Clitoral hypertrophy	ORPHA:912
Pediatric Systemic Lupus Erythematosus	Raynaud phenomenon, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymp...	ORPHA:93552
Poems Syndrome	Papilledema, Thrombocytosis, Lymphadenopathy, Pulmonary arterial hypertension, Ascites, Polycythe...	ORPHA:2905
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia	ORPHA:2143
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Elevated circulating C-reac...	ORPHA:1304
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	OMIM:600001
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Developmental And Epileptic Encephalopathy 89	Hypoplastic labia majora, Hypoplastic labia minora, Clitoral hypertrophy	OMIM:619124
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Clitoral hypertrophy	OMIM:214110
Tangier Disease	Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy...	ORPHA:31150
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma	ORPHA:2328
H Syndrome	Hypertriglyceridemia, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosplenom...	ORPHA:168569
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Mucopolysaccharidosis Type 2	Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Peripheral arterial stenosi...	ORPHA:580
Transketolase Deficiency	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def...	ORPHA:488618
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma	ORPHA:1553
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Macro...	OMIM:613457
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Micrognathia, Right ventricular ...	OMIM:619472
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil...	ORPHA:3260
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
22Q11.2 Deletion Syndrome	Polyhydramnios, Micrognathia, Abnormal aortic arch morphology, Atrial septal defect, Arachnodacty...	ORPHA:567
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Genu valgum	OMIM:617798
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Abnormality of male external genitalia, Abnormal external genitalia, Hypospad...	ORPHA:95699
Congenital Disorder Of Glycosylation, Type Iia	Pes planus, Ventricular septal defect, Proximal placement of thumb, Coxa valga, Slender long bone	OMIM:212066
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:261540
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Ataxia, Elevated circulating alpha-feto...	ORPHA:420741
Townes-Brocks Syndrome 1	2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, Ventricular septal defect, 1-2 toe s...	OMIM:107480
Holoprosencephaly	Ventricular septal defect, Abnormal pulmonary valve morphology, Talipes, Congenital diaphragmatic...	ORPHA:2162
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Skeletal muscle atrophy, Hypoplastic scapulae, Camptodactyly of finger, Cardiomega...	OMIM:256040
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Pes planus, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia	OMIM:616901
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ...	ORPHA:2255
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Microretrognathia, Toe syndactyly, Ventricular septal defect, Single transverse palmar crease, Po...	ORPHA:459070
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Branchioskeletogenital Syndrome	Unilateral cleft palate, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate...	ORPHA:1299
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Avascular necrosis of the capita...	OMIM:222470
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Meier-Gorlin Syndrome 5	Submucous cleft hard palate, Thick vermilion border, Long philtrum	OMIM:613805
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Torticollis, Levator palpebrae superioris atrophy, Ha...	ORPHA:45358
Joubert Syndrome 2	Ataxia, Retinal dystrophy, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:608091
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Pes planus, Overlapping toe, Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteri...	OMIM:616682
Genitopatellar Syndrome	Cryptorchidism, Small scrotum, Clitoral hypertrophy	ORPHA:85201
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard palate, Dental maloc...	OMIM:115150
Intellectual Developmental Disorder, Autosomal Dominant 47	Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Macronodular c...	OMIM:620005
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Rabson-Mendenhall Syndrome	Ventricular septal defect, Cardiomyopathy, Macroglossia, Polydactyly, Atrial septal defect	ORPHA:769
Neu-Laxova Syndrome	Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, E...	ORPHA:2671
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Micrognathia, Patent ductus a...	ORPHA:3047
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Optic nerve compression, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphate...	ORPHA:667
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus...	OMIM:618820
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Pes planus, Wormian bones, Abnormality of the wrist, Elbow dislocation, Abnorm...	ORPHA:285
Pseudohypoparathyroidism Type 1C	Prolonged QT interval	ORPHA:79444
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Micrognathia, Abnormal cerebral vascu...	ORPHA:904
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of...	ORPHA:171
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Dysplastic tri...	ORPHA:1724
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retina...	OMIM:175780
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Gait disturbance	OMIM:620098
Granulomatosis With Polyangiitis	Retinal hemorrhage, Granulomatosis, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage	OMIM:608710
Cockayne Syndrome B	Hepatomegaly, Ataxia, Splenomegaly, Optic atrophy, Hypoplasia of the iris, Hypertension, Pigmenta...	OMIM:133540
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology	ORPHA:254534
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Hematemesis, Increased...	OMIM:615846
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Microg...	OMIM:130720
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Pes planus, Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Postaxial ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Pes planus, Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Postaxial ...	ORPHA:352665
Galloway-Mowat Syndrome 1	Ataxia, Optic atrophy, Hypoplasia of the iris, Hypoalbuminemia, Microphthalmia	OMIM:251300
Blau Syndrome	Pericarditis, Abnormal retinal vascular morphology, Retrobulbar optic neuritis, Splenomegaly, Lar...	ORPHA:90340
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Holoprosencephaly 13, X-Linked	Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in...	OMIM:301043
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Joubert Syndrome 21	Anophthalmia, Ataxia, Splenomegaly, Optic atrophy, Megalopapilla, Retinopathy	OMIM:615636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormal pelvic girdle bone morphology, Growth...	OMIM:102700
Fanconi Anemia, Complementation Group F	Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Microphthalmia, Anemia	OMIM:603467
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Optic atrophy	OMIM:234050
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Ventricular septal defect, Broad ischia, Diaphyseal dysplasia, Short palm,...	OMIM:619727
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Short middle phalanx of finger, Clinodactyl...	OMIM:301030
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Short 5th finger,...	ORPHA:1465
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Trichinellosis	Lethargy, Abnormal optic nerve morphology, Retinal hemorrhage, Central retinal artery occlusion	ORPHA:863
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ...	ORPHA:99646
Amoebiasis Due To Free-Living Amoebae	Arrhythmia	ORPHA:68
Donnai-Barrow Syndrome	Short sternum, Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:222448
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
3Q29 Microdeletion Syndrome	Microphthalmia, Gait disturbance, Pulmonary arterial hypertension	ORPHA:65286
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Pes cavus, Ventricular septal defect, Micrognathia, Abnormal tibia morphology, Abnormal heart mor...	ORPHA:363700
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Micrognathia, Os...	ORPHA:828
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Waardenburg Syndrome, Type 1	Aplasia of the vagina	OMIM:193500
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Patent foramen ovale...	OMIM:607872
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Esophageal varix, Bilateral cleft lip ...	OMIM:301068
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia	ORPHA:1772
Trichothiodystrophy	Joint dislocation, Multiple joint contractures, Ventricular septal defect, Craniosynostosis, Hypo...	ORPHA:33364
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistula, Neonatal death, Met...	OMIM:620024
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c...	OMIM:619503
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Retinal hamartoma, Abnormality of the lymphatic system, Optic atroph...	ORPHA:538
Myopathy With Extrapyramidal Signs	Calf muscle hypertrophy, Ventricular septal defect	OMIM:615673
Zttk Syndrome	Aortic regurgitation, Ventricular septal defect, Craniosynostosis, Patent ductus arteriosus, Flex...	OMIM:617140
Sarcoidosis	Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,...	ORPHA:797
Dubowitz Syndrome	Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala...	OMIM:223370
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Rodrigues Blindness	Microphthalmia	OMIM:268320
Hallermann-Streiff Syndrome	Optic disc coloboma, Telangiectasia, Choreoathetosis, Hypertension, Pulmonary arterial hypertensi...	OMIM:234100
Diets-Jongmans Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Hip dysplasia, Interr...	OMIM:618846
Coccidioidomycosis	Pericarditis, Abnormal retinal morphology, Eosinophilia, Abnormality of the spleen, Mediastinal l...	ORPHA:228123
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Ventricular septal defect, Polyhydramnios, Micrognat...	OMIM:606170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613150
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ...	ORPHA:79098
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia	ORPHA:3169
Chromosome 13Q33-Q34 Deletion Syndrome	Left ventricular hypertrophy, Microphthalmia, Pulmonic stenosis	OMIM:619148
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Raynaud phenomenon, Lymphadenopathy, T lymphocytopenia, Neutropenia,...	OMIM:607944
Warburg Micro Syndrome 2	Microphthalmia, Optic atrophy	OMIM:614225
Jacobsen Syndrome	Ventricular septal defect, Micrognathia, Missing ribs, Flexion contracture, Clinodactyly of the 5...	OMIM:147791
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Cleft soft palate, Smooth philtrum	OMIM:619321
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Galloway-Mowat Syndrome 3	Microphthalmia, Hypoalbuminemia, Hypertension	OMIM:617729
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Cryptorchidism, Ulnar bo...	OMIM:201750
Meckel Syndrome 14	Microphthalmia, Mitral regurgitation, Tricuspid regurgitation, Hepatic fibrosis	OMIM:619879
Okamoto Syndrome	Prominent metopic ridge, Ventricular septal defect, Talipes, Abnormal left ventricle morphology, ...	ORPHA:2729
Opitz Gbbb Syndrome	Prominent metopic ridge, Ventricular septal defect, Craniosynostosis, Micrognathia, Congenital di...	ORPHA:2745
Microphthalmia, Lenz Type	Microphthalmia, Optic disc coloboma, Chorioretinal coloboma	ORPHA:568
Dubowitz Syndrome	Delayed eruption of teeth, Anal stenosis, Abnormality of the dentition, Malabsorption, Rectal pro...	ORPHA:235
Cockayne Syndrome A	Hip contracture, Ivory epiphyses of the phalanges of the hand, Hypertension, Square pelvis bone, ...	OMIM:216400
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ...	OMIM:123700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Aicardi Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor...	ORPHA:50
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Abnormal circulating apolipoprotein concentration, Subretinal pigment epithelium hemorrhage	ORPHA:357074
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Retinal atrophy, Elevated circulating creatine kinase concentration, Optic atrophy, Buphthalmos, ...	OMIM:253280
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Microg...	OMIM:613309
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Intestinal bleeding, Lymphadenopathy	ORPHA:424016
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Raynaud phenomenon, Ly...	ORPHA:331235
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hip dysplasia, Cli...	OMIM:616975
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ventricular septal defect, Polyhydramnios	OMIM:243150
Lenz-Majewski Hyperostotic Dwarfism	Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cleft palate...	ORPHA:2658
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Hennekam Syndrome	Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Ascites, Hypocalcemia, Lymphangioma, L...	ORPHA:2136
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Ventricular septal defect, Deviation of the hallux, Patent ductu...	ORPHA:434179
Esophageal Atresia	Ventricular septal defect, Polyhydramnios, Coarctation of aorta, Clinodactyly, Tetralogy of Fallot	ORPHA:1199
Wolf-Hirschhorn Syndrome	Vertebral fusion, Decreased muscle mass, Ventricular septal defect, Single transverse palmar crea...	OMIM:194190
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Thin lower lip vermilion, W...	OMIM:619194
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Syndromic Diarrhea	Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,...	ORPHA:84064
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Tricuspid regurgitation, Anophthalmia, Chorioretinal dysplas...	ORPHA:2556
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Micrognathia, Cardiomegaly, Patent ductus arteriosus, Dehydration, Mac...	ORPHA:96191
Fgfr2-Related Bent Bone Dysplasia	Clitoral hypertrophy	ORPHA:313855
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Pigmentary retinopathy	OMIM:614230
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Overlapping toe, Single transverse palmar crease, Micrognathia, Hip di...	OMIM:613884
Autosomal Dominant Kenny-Caffey Syndrome	Papilledema, Bilateral microphthalmos, Retinal calcification, Anemia, Hyperphosphatemia, Hypocalc...	ORPHA:93325
Coffin-Siris Syndrome 1	Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Sandal gap,...	OMIM:135900
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia, Optic atrophy	OMIM:618727
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Elevated amni...	OMIM:249000
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart...	ORPHA:506
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Systemic Lupus Erythematosus	Hemolytic anemia, Raynaud phenomenon, Lymphadenopathy, Hypertension, Leukopenia, Retinopathy, Thr...	ORPHA:536
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar...	ORPHA:209905
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Polyhyd...	OMIM:601803
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Arteriovenous fistula, Distal lower limb muscle weakness, Lower lim...	ORPHA:79093
Aprosencephaly Syndrome	Hand oligodactyly	OMIM:207770
Renpenning Syndrome 1	Ventricular septal defect, Micrognathia, Situs inversus totalis, Narrow foot, Joint contracture o...	OMIM:309500
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Optic disc coloboma, Pulmonary arterial hypertension, Unconjugated hyperbi...	OMIM:620186
Lateral Meningocele Syndrome	Wormian bones, Prominent metopic ridge, Ventricular septal defect, Micrognathia	ORPHA:2789
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ...	ORPHA:1780
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Orofaciodigital Syndrome Xiv	Microretrognathia, Ventricular septal defect, Broad hallux, Micrognathia, Patent ductus arteriosu...	OMIM:615948
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypogonadotropic hypogonadism, Cryptorchidism, Transverse vaginal septum, Rectovaginal fistula, M...	OMIM:129900
Williams-Beuren Syndrome	Hallux valgus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Down-slopin...	OMIM:194050
Chikungunya	Abnormal bleeding, Epistaxis, Raynaud phenomenon, Cervical lymphadenopathy, Lymphadenopathy, Ging...	ORPHA:324625
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Ventricular septal defect	OMIM:300472
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Aicardi Syndrome	Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy, Hepatoblastoma, Mi...	OMIM:304050
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Mediastinal lymphadeno...	OMIM:181000
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitonea...	ORPHA:449395
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Raynaud phenomenon, Vasculitis, Biliary cirrhosis, L...	ORPHA:289390
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydra...	OMIM:611812
Early Infantile Epileptic Encephalopathy	Short finger, Ventricular septal defect, Broad finger, Broad phalanx of the toes	ORPHA:1934
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Single trans...	OMIM:619475
Lipodystrophy, Congenital Generalized, Type 1	Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries	OMIM:608594
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Abnormal optic nerve morphology	ORPHA:3412
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Hypermyelinated retinal nerve fibers	OMIM:601812
Tolchin-Le Caignec Syndrome	Submucous cleft hard palate, High palate, Narrow mouth	OMIM:618971
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Ventricular septal defect, Micrognathia	ORPHA:1393
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Cryptorchidism, Micropenis, Transverse vaginal septum, Hypogonadotropic hypogonadism	OMIM:604292
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Calcaneovalgus deformity, Flexion contracture, Long hallux, Long toe, Synd...	ORPHA:261537
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Alport Syndrome	Clitoral hypertrophy	ORPHA:63
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Clitoral hype...	ORPHA:508
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect, Micrognathia, Metatarsus adductus, Osteopathia striata, Right aortic a...	ORPHA:513456
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Heart murmur, Palpitatio...	ORPHA:100079
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal...	ORPHA:449563
Mowat-Wilson Syndrome	Bicuspid aortic valve, Calcaneovalgus deformity, Flexion contracture, Long toe, Syndactyly, Broad...	ORPHA:2152
Lipodystrophy, Congenital Generalized, Type 2	Labial hypertrophy, Clitoral hypertrophy, Polycystic ovaries	OMIM:269700
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Chorioretinal dysplasia, Buphthalmos, Anemia, Hypokalemia, Hypophosp...	ORPHA:534
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Pes planus, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:619575
Frontorhiny	Microphthalmia	ORPHA:391474
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Microphthalmia, Acute lymphoblastic leukemia, Ascites	ORPHA:1052
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Microphthalmia	OMIM:259770
Johanson-Blizzard Syndrome	Hypospadias, Urethrovaginal fistula, Septate vagina, Cryptorchidism, Rectovaginal fistula, Microp...	OMIM:243800
Hallermann-Streiff Syndrome	Microphthalmia, Abdominal situs inversus, Congestive heart failure	ORPHA:2108
Monosomy 9Q22.3	Microphthalmia, Retinopathy	ORPHA:77301
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate	OMIM:618891
Fryns Syndrome	Microphthalmia	ORPHA:2059
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas, Telangiectasia	OMIM:268400
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of the thymus	ORPHA:861
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Proteus-Like Syndrome	Venous insufficiency, Genu recurvatum, Lower limb asymmetry	ORPHA:2969
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Anomalous origin of l...	ORPHA:438213
Acrofrontofacionasal Dysostosis 1	Microphthalmia, Optic atrophy	OMIM:201180
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Mend Syndrome	Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Aortic valve stenosis	ORPHA:401973
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Cleft palate, Downturned corners of mouth, Thin vermilion border, Short philtrum, Submucous cleft...	ORPHA:500150
Kabuki Syndrome 1	Joint dislocation, Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defec...	OMIM:147920
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia, Pers...	OMIM:619268
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Micrognathia, Dilatation of the...	OMIM:619991
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Metopic synostosis, Tetr...	OMIM:618748
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Trichorhinophalangeal Syndrome, Type Ii	Bilateral cryptorchidism, Hydrometrocolpos	OMIM:150230
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Lymphadenopathy	ORPHA:449432
Holoprosencephaly 2	Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in...	OMIM:157170
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Phace Syndrome	Microphthalmia, Retinal vascular malformation, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Cushing Syndrome Due To Ectopic Acth Secretion	Lymphopenia, Pancreatic adenocarcinoma, Myocardial infarction, Pancreatoblastoma, Neoplasm of the...	ORPHA:99889
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Restrictive Dermopathy 1	Natal tooth, Submucous cleft hard palate, Stillbirth, Narrow mouth, Neonatal death	OMIM:275210
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,...	ORPHA:3455
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Lymphadenopathy, Abnormal optic nerve morphology, Optic nerve compressi...	ORPHA:79078
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Neuroocular Syndrome	Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus...	OMIM:619539
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o...	ORPHA:649
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood...	ORPHA:468631
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Flexion contracture, Ventricular septal defect	OMIM:619306
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate	ORPHA:2636
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Sotos Syndrome	Hip contracture, Pes planus, Ventricular septal defect, Ankle flexion contracture, Craniosynostos...	ORPHA:821
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:141099
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Ventricular septal defect, Long fingers, Cutaneous syndactyly, Toe clinodactyly	OMIM:620330
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate	OMIM:619325
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios, Bilateral talipes equinovarus	ORPHA:49
Fontaine Progeroid Syndrome	Left ventricular hypertrophy, Microphthalmia, Tricuspid regurgitation, Pulmonary arterial hyperte...	OMIM:612289
Charge Syndrome	Microphthalmia, Anophthalmia, Optic atrophy, Chorioretinal coloboma	ORPHA:138
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pyloric stenosis, Submucous cleft hard palate, ...	OMIM:235730
Monosomy 13Q14	Microphthalmia, Retinoblastoma	ORPHA:1587
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Monosomy 9P	Microphthalmia	ORPHA:261112
Branchiooculofacial Syndrome	Anophthalmia, Duplication of internal organs, Retinal coloboma, Microphthalmia, Ectopic thymus ti...	OMIM:113620
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Restrictive Dermopathy	Natal tooth, Submucous cleft hard palate, Microcolon, Narrow mouth	ORPHA:1662
Craniofacial Microsomia 1	Ventricular septal defect, Block vertebrae, Hypoplasia of facial musculature, Micrognathia, Parti...	OMIM:164210
Digeorge Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Patellar dislocation, Interrup...	OMIM:188400
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Microphthalmia	OMIM:612474
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Polyhydramnios	ORPHA:436252
Congenital Disorder Of Glycosylation, Type Iiw	Pes planus, Tetralogy of Fallot, Ventricular septal defect, Micrognathia	OMIM:619525
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Microphthalmia	OMIM:613406
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Retinal dystrophy	OMIM:607932
Townes-Brocks Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:857
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Chorioretinal coloboma, Optic disc coloboma	OMIM:309800

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Uterus - MPATH pathological process term inspissation	Tbx3^em1(IMPC)Mbp	HET		Early adult

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 Tbx3.

No publications found that use IMPC mice or data for Tbx3.

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MGI Allele	Allele Type	Produced
Tbx3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Tbx3^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, 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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Gene: Tbx3 MGI:98495

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Tbx3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data