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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
enlarged spleen	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Tbx3^em1(IMPC)Mbp	HOM	E9.5	0.00
decreased locomotor activity	Tbx3^em1(IMPC)Mbp	HET	Early adult	1.72×10^-06
abnormal retina vasculature morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	2.06×10^-05
abnormal eye morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal retina blood vessel morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	7.12×10^-05
increased circulating alkaline phosphatase level	Tbx3^em1(IMPC)Mbp	HET	Early adult	3.73×10^-06
abnormal lymph node morphology	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00
eye hemorrhage	Tbx3^em1(IMPC)Mbp	HET	Early adult	6.56×10^-06
microphthalmia	Tbx3^em1(IMPC)Mbp	HET	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body 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 (2493 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		Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,...	ORPHA:3138
Ulnar-Mammary Syndrome		Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short...	OMIM:181450

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

Disease	Matching phenotypes	Source
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Atrioventricular Dissociation	Congenital atrioventricular dissociation	OMIM:209600
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely...	OMIM:613694
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Muscular Dystrophy, Becker Type	Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Progressive Familial Heart Block, Type Ia	Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas...	OMIM:113900
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Nathalie Syndrome	Arrhythmia	ORPHA:2663
Syngnathia	Cleft palate	OMIM:119550
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Orofacial Cleft 11	Cleft lip, Cleft palate	OMIM:600625
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Atrial arrhythmia, First degree atrioventricular block, Atrioventricular block, Absent P wave, Pa...	OMIM:310300
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A...	OMIM:612158
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block	OMIM:616812
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Holt-Oram Syndrome	Broad thumb, Absent thumb, Abnormal metacarpal morphology, Patent ductus arteriosus, Radioulnar s...	ORPHA:392
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Sinus Node Disease And Myopia	Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin	OMIM:182190
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Congenital Radioulnar Synostosis	Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ...	ORPHA:3269
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Proximal placement of th...	OMIM:142900
Desminopathy	Congestive heart failure, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, At...	ORPHA:98909
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov...	OMIM:611705
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Arrhythmia	ORPHA:85447
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Epiphyseal Dysplasia, Baumann Type	Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,...	OMIM:610797
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hydrops fetalis, Finger aplasia, Neonatal death, Endocardial fibroelastosis	OMIM:276822
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Heart-Hand Syndrome, Spanish Type	Sick sinus syndrome	OMIM:140450
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Fibular Hemimelia	Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ...	ORPHA:93323
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Bundle Branch Block, Familial Isolated Complete Right	Right bundle branch block	OMIM:113950
Sick Sinus Syndrome 3, Susceptibility To	Sick sinus syndrome	OMIM:614090
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Brachydactyly, Short 5th finger, Atrial septal defect, Aplasia/Hypoplasia of...	ORPHA:52056
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Orofacial Cleft 10	Unilateral cleft lip, Unilateral cleft palate	OMIM:613705
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Stillbirth, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypopla...	OMIM:200700
Pseudoachondroplasia	Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu...	OMIM:177170
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Neonatal death, Bradycardia	OMIM:620265
Metaphyseal Anadysplasia	Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Bowing of the long bones, A...	ORPHA:1040
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Carpal bone hypoplasia, Flared metaphysis, Cone-shaped epiphyses of...	OMIM:184252
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h...	OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Arrhythmia	OMIM:618453
Kearns-Sayre Syndrome	Third degree atrioventricular block	ORPHA:480
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy	OMIM:192600
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho...	ORPHA:2779
Congenital Myopathy 24	First degree atrioventricular block, Cardiomyopathy	OMIM:617336
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 2	Reduced left ventricular ejection fraction, Angina pectoris, Atrial fibrillation, Right bundle br...	OMIM:115195
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda...	OMIM:246570
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2	Right bundle branch block	OMIM:613158
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Ivic Syndrome	Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Patent du...	OMIM:147750
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse...	ORPHA:1972
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ...	ORPHA:93314
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Ventricular septal defect...	OMIM:601005
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Abnormality of the hand, Anterior ...	OMIM:605274
Leri-Weill Dyschondrosteosis	Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi...	OMIM:127300
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim...	ORPHA:93320
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su...	ORPHA:137675
Orofacial Cleft 5	Cleft upper lip, Cleft palate	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft upper lip, Cleft palate	OMIM:608864
Orofacial Cleft 1	Cleft upper lip, Cleft palate	OMIM:119530
Pulmonary Hypertension, Primary, 4	Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ...	OMIM:615344
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca...	ORPHA:457395
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Subarachnoid hemorrhage,...	OMIM:232300
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis...	OMIM:606895
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Unilateral facial palsy, Absent scaphoid, Aplasia of the 1st metacarpal...	OMIM:617247
Heart-Hand Syndrome Type 2	Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal...	ORPHA:1350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Santos Syndrome	Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly...	OMIM:613005
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge...	ORPHA:2141
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl...	OMIM:610713
Uvula, Bifid	Bifid uvula	OMIM:192100
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormality of the humerus, Abnormality of the humeroulnar joint...	ORPHA:1570
Atelosteogenesis, Type I	Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti...	OMIM:312700
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block	Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin	OMIM:609438
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Abnormal left ventricular function, Heart block, Cardiomyopathy	ORPHA:98912
Familial Atrial Fibrillation	Atrial fibrillation, Palpitations, Syncope, Myocardial infarction	ORPHA:334
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom...	OMIM:300257
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Gait disturbance	ORPHA:2274
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Premature ventricular co...	OMIM:620066
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Abnormality of the wrist, Abnormal metacarpal morphology,...	ORPHA:3138
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri...	OMIM:212138
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:606685
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Dislocated radial hea...	OMIM:618395
Leiomyoma Of Vulva And Esophagus	Clitoral hypertrophy	OMIM:150700
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t...	ORPHA:2632
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Dystonia 23	Arrhythmia	OMIM:614860
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Monosodium Glutamate Sensitivity	Palpitations	OMIM:231630
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo...	ORPHA:75508
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Congenital Laryngomalacia	Non-midline cleft of the upper lip, Cleft palate	ORPHA:2373
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular outflow tract obstruction, Low-output congestive heart failure, Hypertrophic car...	ORPHA:308552
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse...	OMIM:226980
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Sho...	OMIM:250420
Eiken Syndrome	Fibular hypoplasia, Cubitus valgus, Delayed epiphyseal ossification, Broad palm, Abnormal acetabu...	ORPHA:79106
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Cardiomyopathy	ORPHA:320360
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Mitochondrial Complex I Deficiency, Nuclear Type 13	Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Finger aplasia, Micrognathia, Abn...	ORPHA:3104
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Arrhythmia	ORPHA:104
Combined Oxidative Phosphorylation Deficiency 15	Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome	OMIM:614947
Scapuloperoneal Myopathy, X-Linked Dominant	Right bundle branch block	OMIM:300695
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Oligodactyly, Ectrodactyly, Abnormal metacarpal morphology	ORPHA:2730
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short...	OMIM:181450
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Boomerang Dysplasia	Absent radius, Fibular aplasia, Neonatal death, Hypoplastic iliac body	OMIM:112310
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Vaginal Atresia	Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ...	ORPHA:65681
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph...	ORPHA:240
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card...	OMIM:605362
Neonatal Lupus Erythematosus	Heart block, Prolonged QT interval, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy, A...	ORPHA:398124
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft upper lip, Cleft palate	OMIM:106250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Curly eyelashes, Single interp...	OMIM:611717
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M...	OMIM:249700
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia...	ORPHA:40366
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Right bundle branch block, Dilated cardiomyopathy	ORPHA:206559
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Arachnodactyly, Breast aplasia	OMIM:612242
Lyme Disease	Atrioventricular block, Arrhythmia	ORPHA:91546
Tukel Syndrome	Carpal bone aplasia, Carpal synostosis, Syndactyly, Congenital fibrosis of extraocular muscles, P...	OMIM:609428
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Right axis deviation, Elevated jugular venous press...	OMIM:255160
46,Xx Sex Reversal 4	Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ...	OMIM:617480
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Symmetrical Thalamic Calcifications	Arrhythmia	ORPHA:1314
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ...	OMIM:184253
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Atrial Fibrillation, Familial, 1	Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 2	Atrial fibrillation	OMIM:608988
Atrial Fibrillation, Familial, 8	Atrial fibrillation	OMIM:613055
Moebius Syndrome	Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the...	ORPHA:570
Atrial Fibrillation, Familial, 5	Atrial fibrillation	OMIM:611494
Atrial Fibrillation, Familial, 12	Paroxysmal atrial fibrillation	OMIM:614050
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Short finger, Abnormal long bone morphology, Short toe, Abnormal pelvic girdle bone morphology	OMIM:259270
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ...	ORPHA:1275
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr...	ORPHA:79102
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Illum Syndrome	Bradycardia	OMIM:208155
Ring Chromosome 4 Syndrome	Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the...	ORPHA:1447
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Boomerang Dysplasia	Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Hydrops fet...	ORPHA:1263
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Loeffler Endocarditis	Congestive heart failure, Aortic regurgitation, Palpitations, Restrictive cardiomyopathy, Right b...	ORPHA:75566
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormal hair morphol...	OMIM:250460
Myotonic Dystrophy 1	Atrial fibrillation, First degree atrioventricular block, Atrial flutter	OMIM:160900
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Arrhythmia	ORPHA:154
Femur-Fibula-Ulna Complex	Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh...	ORPHA:2019
Familial Exudative Vitreoretinopathy	Macular telangiectasia, Microphthalmia, Macular edema, Macular exudate, Chorioretinal atrophy, Vi...	ORPHA:891
Atrophoderma Vermiculata	Heart block	ORPHA:79100
Immune Thrombocytopenia	Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ...	ORPHA:3002
Radial Hemimelia	Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali...	ORPHA:93321
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Ulna Metaphyseal Dysplasia Syndrome	Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal metacarpal morphology, Abnor...	ORPHA:1837
Congenital Velopharyngeal Incompetence	Abnormal palate morphology, Velopharyngeal insufficiency	ORPHA:2291
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Carpal osteolysis, Pterygium, Osteolysis involving bones of the lower limb...	ORPHA:371428
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Cleft palate	OMIM:172880
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:616198
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ...	OMIM:182255
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Arrhythmia	ORPHA:1808
Bifid Uvula	Cleft lip, Bifid uvula, Submucous cleft soft palate	ORPHA:99771
Idiopathic Congenital Hypothyroidism	Bradycardia	ORPHA:95717
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Mucolipidosis Iii Alpha/Beta	Carpal bone hypoplasia, Severely reduced left ventricular ejection fraction, Aortic regurgitation...	OMIM:252600
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F...	ORPHA:3329
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased cervical spine...	ORPHA:98855
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Peripheral edema, Cardiomegaly, Reduced left ventricular ejection...	ORPHA:1677
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo...	OMIM:201170
ERI1-related disease	Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Ve...	OMIM:608739
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Retinopathy Of Prematurity	Retinopathy of prematurity, Tractional retinal detachment, Abnormal retinal vascular morphology, ...	ORPHA:90050
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis	ORPHA:71289
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Atrioventricular block, Mitral r...	OMIM:234700
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism	ORPHA:1345
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial septal defect,...	OMIM:249670
Fibular Aplasia-Ectrodactyly Syndrome	Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Retinal Capillary Malformation	Retinal exudate, Retinal capillary hemangioma, Vitreous floaters, Hyphema, Epiretinal membrane, C...	ORPHA:71213
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Arrhythmia	ORPHA:99944
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ...	ORPHA:75565
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Erythrokeratodermia Variabilis Et Progressiva 6	Arrhythmia	OMIM:618531
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Craniosynostosis, Femoral bowin...	OMIM:616723
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Single transverse palmar crease, Craniosynostosis	OMIM:218550
Otopalatodigital Syndrome Type 2	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h...	ORPHA:90652
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Orofaciodigital Syndrome Vi	Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly...	OMIM:277170
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased cervical spine...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased cervical spine...	ORPHA:98853
Humero-Radio-Ulnar Synostosis	Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Upper...	ORPHA:3266
Acrorenal Syndrome	Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla...	ORPHA:971
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Fibular bowing,...	ORPHA:3344
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Grange Syndrome	Aortic regurgitation, Hypertension, Short palm, Syndactyly, Arterial stenosis, Patent ductus arte...	ORPHA:79094
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Glycogen Storage Disease Iv	Hydrops fetalis, Polyhydramnios, Bradycardia, Cardiomyopathy, Ascites, Portal hypertension, Skele...	OMIM:232500
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Cousin Syndrome	Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Disloca...	OMIM:260660
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Prolonged PR interval	OMIM:108900
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Humeroradial synostosis, Arachnodactyly, Oligodactyly, Craniosynostosis	OMIM:614416
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty...	ORPHA:3258
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Polyhydramnios, Epiphyseal stippling of the hum...	ORPHA:56305
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased cervical spine...	ORPHA:98863
Cardiomyopathy, Familial Hypertrophic, 7	Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro...	OMIM:613690
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal metacarpal morphology, Abnormal hair quantity, Abnormal testis morphology, Low posterior...	ORPHA:2233
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Microphthalmia With Limb Anomalies	Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ...	OMIM:206920
Variegate Porphyria	Tachycardia	OMIM:176200
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Abnormality of the hand, Atrial septal defect, Clinodactyly of the 5th finger, Clinodactyly of th...	ORPHA:521308
Combined Oxidative Phosphorylation Deficiency 45	Cardiac arrest	OMIM:618951
Distal Limb Deficiencies-Micrognathia Syndrome	Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o...	ORPHA:1307
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Ebstein Malformation Of The Tricuspid Valve	Congestive heart failure, Atrial fibrillation, Right bundle branch block, Cerebral ischemia, Arrh...	ORPHA:1880
Brachydactyly Type A1	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall...	ORPHA:93388
Pseudoachondroplasia	Short long bone, Flat acetabular roof, Increased laxity of ankles, Hypoplastic pelvis, Metaphysea...	ORPHA:750
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Polyhydramnios, Finger syndactyly, Aplasia of the proximal phalanges of t...	ORPHA:2256
Liddle Syndrome	Hypertension, Cerebral ischemia, Arrhythmia	ORPHA:526
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
10Q22.3Q23.3 Microdeletion Syndrome	Breast aplasia, Arachnodactyly, Microretrognathia, Patent ductus arteriosus, Curved middle phalan...	ORPHA:276413
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Atrial fibrillation, Atrial flutter, Hypertension, Reduced left ventricular ejection fraction	OMIM:620734
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Spinocerebellar Ataxia, Autosomal Recessive 23	Arrhythmia	OMIM:616949
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ...	OMIM:193235
Mucolipidosis Ii Alpha/Beta	Short long bone, Flat acetabular roof, Flared iliac wing, Wide intermamillary distance, Splenomeg...	OMIM:252500
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Absent eyelashes, Osteolytic defects of the distal phalanges of the hand, Wormian...	ORPHA:90153
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Cleft Palate, Isolated	Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite	OMIM:119540
Cranioacrofacial Syndrome	Pulmonic stenosis, Dupuytren contracture, Abnormal hand morphology, Ventricular septal defect	OMIM:122850
Acromesomelic Dysplasia 4	Short finger, Broad finger, Genu valgum, Rhizomelia, Short metatarsal, Sandal gap, Ulnar bowing, ...	OMIM:619636
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten...	OMIM:614473
Craniosynostosis, Adelaide Type	Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin...	OMIM:600593
Atrial Fibrillation, Familial, 6	Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Reduced left ventricular e...	OMIM:612201
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Feingold Syndrome Type 2	Short middle phalanx of finger, Short thumb, Brachydactyly, Toe syndactyly, Ventricular septal de...	ORPHA:391646
Baller-Gerold Syndrome	Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Abnormal ...	OMIM:218600
Bardet-Biedl Syndrome 6	External genital hypoplasia, Hypospadias, Vaginal atresia	OMIM:605231
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,...	ORPHA:26793
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Meta...	ORPHA:93317
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ...	OMIM:618052
Kearns-Sayre Syndrome	Arrhythmia, Cardiomyopathy, Third degree atrioventricular block	OMIM:530000
Feingold Syndrome 2	2-3 toe syndactyly, Short middle phalanx of the 5th finger, 3-4 toe syndactyly, Short thumb, Shor...	OMIM:614326
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Oligodactyly, Split hand, Absent hand	ORPHA:2440
Otoonychoperoneal Syndrome	Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Knee flexion contra...	OMIM:259780
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Arrhythmia	OMIM:616516
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Exudative Vitreoretinopathy 1	Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo...	OMIM:133780
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Transposition of the great arteries, Atrioventricular canal defect, Proximal placement of thumb, ...	OMIM:314390
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Orofacial Cleft 13	Oligodontia, Cleft soft palate	OMIM:613857
Eales Disease	Ischemic stroke, Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, ...	ORPHA:40923
Glutamine Deficiency, Congenital	Neonatal death, Bradycardia	OMIM:610015
Eng-Strom Syndrome	Arthritis, Camptodactyly of finger, Brachydactyly, Ventricular septal defect, Abnormal cardiac se...	ORPHA:1937
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the...	OMIM:615297
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Cardiomyopathy, Arrhythmia	OMIM:612999
Meier-Gorlin Syndrome 7	Meconium peritonitis, Breast aplasia, Dislocated radial head, Aplasia/Hypoplasia of the patella, ...	OMIM:617063
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG	OMIM:310200
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno...	ORPHA:2491
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of...	OMIM:607078
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Polyhydramnios, Flexion contracture of toe, Clinodactyly of ...	OMIM:300373
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Limb-Mammary Syndrome	Clinodactyly of the 5th finger, Aplasia of the ovary, Breast aplasia, Oligodactyly, Hypoplastic n...	ORPHA:69085
Myopathy, X-Linked, With Postural Muscle Atrophy	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:300696
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Clinodactyly of the 5th finger, Hypertension, Oligodactyly, Secundum atrial septal defect, Short ...	OMIM:619758
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog...	OMIM:617912
46,Xy Sex Reversal 6	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Gonadoblastoma, Dysgerminoma, Sex...	OMIM:613762
Atrial Septal Defect 1	Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu...	OMIM:108800
Multiple Epiphyseal Dysplasia Type 4	Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim...	ORPHA:93307
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic...	OMIM:228520
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla...	ORPHA:2878
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Mahvash Disease	Palpitations	OMIM:619290
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu...	ORPHA:968
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Vitreoretinochoroidopathy	Microphthalmia, Retinal detachment, Abnormality of chorioretinal pigmentation, Retinal arteriolar...	OMIM:193220
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Purpura, Pulmonary embolism	OMIM:612304
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische...	ORPHA:99104
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Cone-shaped epiphysis, Coxa valga, Genu varum, Hypop...	ORPHA:950
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:613876
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Hydrocolpos, Partial vaginal septum, Abnormal uterine cervix morphology	ORPHA:3411
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a...	OMIM:602418
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Left ventricular outflow tract obstruction, Aortic valve stenosis,...	OMIM:615779
Mental Retardation Syndrome, Mietens-Weber Type	Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep...	OMIM:249600
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal mitral valve morphology, Micrognathia, Mesomelia, Brachydactyly	ORPHA:1277
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Microphthalmia	OMIM:251700
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ...	ORPHA:93351
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Glycogen Storage Disease Due To Acid Maltase Deficiency	Left ventricular outflow tract obstruction, Vasculitis, Transient ischemic attack, Hypertrophic c...	ORPHA:365
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Arrhythmia	ORPHA:157973
Split-Hand/Foot Malformation 1	Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Foot oligodactyly, Syn...	OMIM:183600
Idiopathic/Heritable Pulmonary Arterial Hypertension	Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmonary arterial h...	ORPHA:422
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Pseudohermaphroditism, Female, With Skeletal Anomalies	Ambiguous genitalia, Clitoral hypertrophy	OMIM:264270
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Congenital-Onset Steinert Myotonic Dystrophy	First degree atrioventricular block, Bundle branch block	ORPHA:589821
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Wrist flexion contracture, Short humerus, Absent thumb, Syndactyly, A...	OMIM:268300
Atrial Septal Defect 2	Atrioventricular canal defect, Aortic regurgitation, Dextrocardia, Pulmonic stenosis, Patent duct...	OMIM:607941
Exudative Vitreoretinopathy 4	Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudative vitreore...	OMIM:601813
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr...	OMIM:614980
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger, Sandal gap	ORPHA:2515
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Pallister-Hall Syndrome	Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly, Hip dislo...	OMIM:146510
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Arrhythmia, Abnormal left...	OMIM:540000
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Anemia, Enlarged kidney, Abnormality of the lymphatic sys...	ORPHA:464329
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin...	ORPHA:93405
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:94080
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Arrhythmia	ORPHA:2928
Split-Hand/Foot Malformation 6	Finger syndactyly, Split hand, Finger aplasia, Split foot, Foot oligodactyly, Toe syndactyly	OMIM:225300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypertension, Ascites, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Patent ductus ...	OMIM:617021
Myofibrillar Myopathy 10	Increased QRS voltage, Prolonged QTc interval	OMIM:619040
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opaci...	OMIM:305390
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t...	ORPHA:1802
Rigid Spine Syndrome	Cardiac conduction abnormality	ORPHA:97244
Familial Drusen	Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne...	ORPHA:75376
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:602390
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Ear-Patella-Short Stature Syndrome	Clinodactyly of the 5th finger, Breast aplasia, Slender long bone, Elbow dislocation, Mandibular ...	ORPHA:2554
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Carpal bone hypoplasia, Irregular epiphyses, Metaphyseal striations, Flared metaphysis, Small epi...	OMIM:610442
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Absent thumb, Radioulnar synost...	OMIM:614900
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay...	ORPHA:1856
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy, Atrial fibrillation	OMIM:613874
Congenital Myopathy 22A, Classic	Polyhydramnios, Talipes, Weakness of facial musculature, Bradycardia, Ragged-red muscle fibers, S...	OMIM:620351
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Sandhoff Disease	Congestive heart failure, Hepatomegaly, Ataxia, Cherry red spot of the macula, Splenomegaly	ORPHA:796
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Bradycardia	ORPHA:226313
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Short long...	ORPHA:1106
Exostoses, Multiple, Type Ii	Genu valgum, Cervical myelopathy, Protuberances at ends of long bones, Short metacarpal, Madelung...	OMIM:133701
Exostoses, Multiple, Type I	Genu valgum, Cervical myelopathy, Protuberances at ends of long bones, Short metacarpal, Madelung...	OMIM:133700
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Pulmonary arterial hypertension, Epistaxis, Intracranial hemorrhage, Second degree ...	ORPHA:369929
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Mildly reduced left ventricular ejection fraction, Arrhythmia	OMIM:618098
Prader-Willi Syndrome Due To Imprinting Mutation	Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Narrow palm, Short foot, Small hand	ORPHA:177910
Premature Ovarian Failure 12	Macular dystrophy, Microphthalmia	OMIM:616947
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Hypopl...	OMIM:607323
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Delayed cranial suture closure, Microm...	ORPHA:2249
Myotonic Dystrophy 2	Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction	OMIM:602668
Distal Myopathy, Tateyama Type	Palpitations	ORPHA:488650
Myopathy, Distal, Tateyama Type	Palpitations	OMIM:614321
Familial Thyroid Dyshormonogenesis	Bradycardia	ORPHA:95716
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, ...	OMIM:614262
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver...	OMIM:176240
Central Retinal Vein Occlusion	Retinal neovascularization, Cystoid macular edema, Macular degeneration, Intraretinal hemorrhage,...	ORPHA:411527
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati...	OMIM:620019
Rhizomelic Chondrodysplasia Punctata, Type 5	Sinus tachycardia	OMIM:616716
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala...	OMIM:271700
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Hypertension, Flexion contracture, Patent ductus arterio...	OMIM:613870
Spastic Paraplegia 9A, Autosomal Dominant	Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology	OMIM:601162
Catel-Manzke Syndrome	Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Camptodactyly of finger, Micr...	ORPHA:1388
Scalp-Ear-Nipple Syndrome	Clinodactyly of the 5th finger, Breast aplasia, Finger syndactyly, 2-3 toe syndactyly, Patchy alo...	OMIM:181270
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Right bundle branch block	ORPHA:254361
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Tricuspid regurgitation, Foot oligodactyly, Syndactyly, ...	OMIM:616589
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pes cavus, Limited knee flexion/extension, Limited elbow movement, Distal upper limb muscle weakn...	ORPHA:268
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave	ORPHA:231625
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Ulnar Hypoplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis...	OMIM:191440
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypertension, Pulmonary arterial hypertension, Second degree atrioventricular block	OMIM:615474
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short 4th metacarpal, Joint dislocation, Tapered finger, Camptodactyly of finger, Aplasia/Hypopla...	ORPHA:3201
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Gaucher Disease Type 2	Cardiac arrest	ORPHA:77260
Ulnar Hypoplasia-Split Foot Syndrome	Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna	ORPHA:1122
Congenital Gerbode Defect	Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis...	ORPHA:99095
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Atrial fibrillation, Hypertrophic cardiomyopathy, Increased left ventri...	OMIM:615248
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Congenital Vertical Talus	Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Equin...	ORPHA:178382
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Cardiomyopathy	ORPHA:329336
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve...	ORPHA:3092
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Enthesitis-Related Juvenile Idiopathic Arthritis	Thickened Achilles tendon, Abnormal heart morphology, Mitral valve prolapse, Limited mobility of ...	ORPHA:85438
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Spontaneous Periodic Hypothermia	Arrhythmia	ORPHA:29822
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Bradycardia	OMIM:617397
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt...	OMIM:611040
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Ventriculomegaly With Defects Of The Radius And Kidney	Vascular dilatation, Forearm undergrowth, Bowed forearm bones, Absent thumb, Absent radius	OMIM:602200
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Buphthalmos, Hemorrhage of the eye, Remnants of the hyaloid vascular system, Reti...	ORPHA:91495
Bullous Lichen Planus	Breast aplasia	ORPHA:33408
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Abnormal metacarpal morphology, Congenital muscular torticollis, Abnormal f...	ORPHA:2538
Polyvalvular Heart Disease Syndrome	Pulmonic stenosis, Aortic valve stenosis, Tricuspid regurgitation, Arrhythmia	ORPHA:228410
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Abnormality of retinal ...	ORPHA:858
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Fabry Disease	Abnormal endocardium morphology, Congestive heart failure, Abnormal femur morphology, Abnormal ao...	ORPHA:324
Multiple Synostoses Syndrome 1	Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho...	OMIM:186500
Dysspondyloenchondromatosis	Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Joint dislocation,...	ORPHA:85198
Microphthalmia/Coloboma 10	Microphthalmia, Chorioretinal coloboma, Anophthalmia, Optic pit	OMIM:616428
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Oligodactyly, Oligohydramnios, Ectrodactyly	ORPHA:3016
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Flat acetabular roof, Limited knee extension, Joint dislocation, ...	OMIM:618870
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spondyloepimetaphyseal Dysplasia, Missouri Type	Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysis, Metaphyseal cupping, Small ...	OMIM:602111
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor...	OMIM:311300
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Unilateral cleft lip, Cleft palate, Cleft soft palate	ORPHA:2736
Cap Myopathy	Sinus tachycardia, Reduced systolic function	ORPHA:171881
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Cardiac arrest, Arrhythmia	ORPHA:168593
Juberg-Hayward Syndrome	Limited elbow extension, Decreased response to growth hormone stimulation test, Abnormal carpal m...	OMIM:216100
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly,...	ORPHA:99827
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Bilateral ulnar hypoplasia	OMIM:276821
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A...	ORPHA:2370
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Pulmonic stenosis, Micro...	OMIM:212780
Hypochondroplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel...	ORPHA:429
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal...	ORPHA:860
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Breast hypoplasia, Cone-shaped epiphysis, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Short...	OMIM:614813
Desbuquois Syndrome	Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho...	ORPHA:1425
Hemochromatosis, Type 4	Cardiomyopathy, Arrhythmia	OMIM:606069
Spinocerebellar Ataxia, Autosomal Recessive 33	Arrhythmia	OMIM:620208
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Hyperuricemia, Decreased proportion ...	ORPHA:543
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
8P23.1 Duplication Syndrome	Pulmonic stenosis, Toe syndactyly, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Trochlea Of The Humerus, Aplasia Of	Cleft palate	OMIM:191000
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Weill-Marchesani Syndrome	Pulmonic stenosis, Aortic valve stenosis, Short thumb, Brachydactyly, Ventricular septal defect, ...	ORPHA:3449
Osteofibrous Dysplasia, Susceptibility To	Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Wild Type Abeta2M Amyloidosis	Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia	ORPHA:85446
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Noonan Syndrome 12	Polyhydramnios, 11 pairs of ribs, Proximal placement of thumb, Tetralogy of Fallot, Ventricular s...	OMIM:618624
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Right bundle branch block	OMIM:616479
Pseudohypoparathyroidism Type 2	Prolonged QT interval	ORPHA:94090
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb sh...	ORPHA:1354
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Aplasia ...	ORPHA:1352
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal...	ORPHA:319675
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Radial deviation of finger, Absent thumb, Absent radius, Overlap...	OMIM:154400
Macular Degeneration, Age-Related, 1	Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ...	OMIM:603075
Recessive Mitochondrial Ataxia Syndrome	ST segment elevation	ORPHA:94125
16P13.11 Microduplication Syndrome	Atrial septal defect, Transposition of the great arteries, Arachnodactyly, Hand polydactyly, Coar...	ORPHA:261243
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Talipes, Clinodactyly of the 5th finger, Cubitus v...	ORPHA:1836
Thrombotic Thrombocytopenic Purpura	Myocardial infarction, Arrhythmia	ORPHA:54057
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:2521
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Petechiae, Chorioretinitis, Retinal hemorrhage, Th...	ORPHA:294
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia	OMIM:191830
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Sho...	OMIM:250220
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hypogonadism, Vaginal atresia	OMIM:615989
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Kerion Celsi	Lymphadenopathy	ORPHA:499
Tetramelic Monodactyly	Split foot, Foot monodactyly, Split hand, Hand monodactyly	OMIM:187510
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Lacunar stroke, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage	OMIM:611773
Aica-Ribosiduria	Clitoral hypertrophy, Fused labia minora	ORPHA:250977
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in...	ORPHA:57777
Eisenmenger Syndrome	Clubbing, Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart m...	ORPHA:97214
Fetal Minoxidil Syndrome	Micrognathia, Ventricular septal defect, Clinodactyly of the 5th finger	ORPHA:1918
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Dilated cardiomyop...	OMIM:610198
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Intellectual Developmental Disorder, Autosomal Recessive 73	Clinodactyly of the 5th finger, Single transverse palmar crease, Patent ductus arteriosus, Pes pl...	OMIM:619717
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Decreased response to growth hormone st...	ORPHA:268261
Aase-Smith Syndrome	Abnormal hip bone morphology, Slender finger, Camptodactyly of finger, Aplasia/Hypoplasia of the ...	ORPHA:916
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ...	OMIM:113000
Incontinentia Pigmenti	Breast hypoplasia, Nail dystrophy, Breast aplasia, Hypoplastic nipples, Sparse hair, Atrophic, pa...	OMIM:308300
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Inability to walk, Retinal dystrophy, Cardiomyopathy, Elevated circulating creati...	OMIM:613155
Seckel Syndrome 1	Talipes, 11 pairs of ribs, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Disloc...	OMIM:210600
Coxopodopatellar Syndrome	Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne...	ORPHA:1509
Pentasomy X	Clinodactyly of the 5th finger, Patent ductus arteriosus, Camptodactyly of finger, Micrognathia, ...	ORPHA:11
Interatrial Communication	Congestive heart failure, Atrial flutter, Right axis deviation, Atrial fibrillation, Right bundle...	ORPHA:1478
Multiple Osteochondromas	Abnormal femur morphology, Cervical myelopathy, Limitation of knee mobility, Abnormal lower limb ...	ORPHA:321
Omodysplasia 1	Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Limited knee flexion/extension,...	OMIM:258315
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Hyperoxaluria, Primary, Type I	Atrioventricular block, Intermittent claudication, Raynaud phenomenon, Arterial occlusion	OMIM:259900
Cardiac Diverticulum	Abnormal coronary artery origin, Premature ventricular contraction, Aortic valve stenosis, Aplasi...	ORPHA:1686
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor...	ORPHA:2299
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Finger syndact...	ORPHA:958
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:156
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Contractural Arachnodactyly, Congenital	Limited knee extension, Congenital finger flexion contractures, Wrist flexion contracture, Arachn...	OMIM:121050
Thoracomelic Dysplasia	Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg...	ORPHA:1803
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Ventricular hypertrophy, Micrognathia, Tetralogy of Fallot, Short thumb, Mit...	OMIM:612561
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Retinal fold, Exudative retinal detachment, Subretinal fluid	ORPHA:209956
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of retinal pigmentation, Chori...	OMIM:251270
Bardet-Biedl Syndrome 19	Y-shaped metacarpals, Partial atrioventricular canal defect, Postaxial polydactyly, Patent ductus...	OMIM:615996
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o...	OMIM:108120
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis,...	OMIM:612840
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Petechiae, Gingival bleeding, Epistaxis, Ecchymosis, Inguinal lymphadenopathy, Abnormal c...	OMIM:620514
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Neonatal death, Secundum atrial septal defect, Reduced left v...	OMIM:620203
Jeune Syndrome	Abnormal metaphysis morphology, Cone-shaped epiphysis, Postaxial hand polydactyly, Abnormal pelvi...	ORPHA:474
Barber-Say Syndrome	Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Generalized hirsutism, Aplasia/H...	ORPHA:1231
Proximal Spinal Muscular Atrophy	Distal lower limb muscle weakness, Distal upper limb muscle weakness, Weakness of facial musculat...	ORPHA:70
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,...	ORPHA:542323
Intellectual Developmental Disorder, Autosomal Recessive 79	Clinodactyly of the 5th finger, Short hallux, Slender finger, Long fingers, Pes planus, Ventricul...	OMIM:620393
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Broad-based gait, Reduced systolic function, Hypoalbu...	OMIM:618805
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest	ORPHA:49827
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Pulmonary insufficiency, Fibular hypoplasia, Irregular epiphyses, Early o...	OMIM:208500
Cleft Velum	Velopharyngeal insufficiency, Cleft soft palate	ORPHA:99772
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Retinal degeneration, Microphthalmia, Macular atrophy	OMIM:267760
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Breast aplasia, Decreased testicular size, Sparse pubic hair, Elevated circulating luteinizing ho...	ORPHA:3044
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Postaxial hand polydactyly, Mitral regurgitation, Abnormal cardiac sep...	ORPHA:83473
Coffin-Siris Syndrome 11	Esophageal atresia, Cleft soft palate, High palate, Downturned corners of mouth, Bifid uvula, Wid...	OMIM:618779
Gombo Syndrome	Microphthalmia	OMIM:233270
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ...	ORPHA:90308
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma, Anophthalmia	OMIM:611638
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Familial Isolated Hypoparathyroidism	Arrhythmia	ORPHA:2238
Craniofrontonasal Syndrome	Breast hypoplasia, Axillary pterygium, Clinodactyly of the 5th finger, Unilateral breast hypoplas...	OMIM:304110
Necrotizing Enterocolitis	Shock, Hypotension, Bradycardia	ORPHA:391673
Familial Multiple Nevi Flammei	Arteriovenous malformation, Venous insufficiency, Abnormality of the lower limb, Abnormality of t...	ORPHA:624
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Ataxia, Retinal dysplasia	OMIM:615771
Hec Syndrome	Cardiomyopathy, Arrhythmia	ORPHA:2119
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Hydrops fetalis, Polyhydramnios, Metaphyseal cupping, Bowing of the l...	ORPHA:85166
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276556
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Micrognathia, Patent ductus arteriosus, Toe syndactyly, Ventricular septal defect	ORPHA:261120
Mmep Syndrome	Split foot, Ventricular septal defect, Triphalangeal thumb	ORPHA:3434
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating ...	OMIM:613313
Estrogen Resistance	Polycystic ovaries, Breast aplasia	OMIM:615363
Bencze Syndrome	Submucous cleft hard palate, Open bite	ORPHA:1241
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi...	ORPHA:2502
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Bradycardia, Reticulocytosis, Pericarditis, Hyperammonemia, Leukopeni...	ORPHA:99826
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul...	ORPHA:70591
Cat Eye Syndrome	Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Micrognathia, Tetr...	OMIM:115470
Microphthalmia/Coloboma 7	Microphthalmia, Inferior chorioretinal coloboma	OMIM:614497
Smith-Mccort Dysplasia 2	Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B...	OMIM:615222
Hypohidrotic Ectodermal Dysplasia	Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Aplasia/Hypoplas...	ORPHA:238468
Scimitar Syndrome	Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Inte...	ORPHA:185
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Ulnar bowing, Pterygium, Absent palmar crease, Hypoplast...	OMIM:263650
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Leber Optic Atrophy	Arrhythmia	OMIM:535000
Leptospirosis	Hyperproteinemia, Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Hypot...	ORPHA:509
Camptobrachydactyly	Septate vagina	OMIM:114150
Ulbright-Hodes Syndrome	Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradial synostosis,...	ORPHA:3404
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia	ORPHA:90673
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Typhoid	Gastrointestinal hemorrhage, Cardiac arrest, Epistaxis, Arrhythmia	ORPHA:99745
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Atelosteogenesis, Type Ii	Stillbirth, Sandal gap, Bifid humerus, Hitchhiker thumb, Short greater sciatic notch, Flat acetab...	OMIM:256050
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation, Intestinal bleeding	OMIM:600195
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Chondrodysplasia, Blomstrand Type	Stillbirth, Hydrops fetalis, Polyhydramnios, Flared metaphysis, Short ribs, Micromelia, Preductal...	OMIM:215045
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Thrombocytopenia, Splenomegaly, Bruising susceptibility	ORPHA:721
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Arrhythmia	OMIM:273400
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Breast aplasia, Hypoplasia of the Leydig cells, Increased circulating ...	ORPHA:755
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Meier-Gorlin Syndrome 1	Absent sternal ossification, Short ribs, Coxa valga, Genu varum, Breast hypoplasia, Camptodactyly...	OMIM:224690
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Hyp...	OMIM:614437
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal fistula, Vaginal...	OMIM:236700
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft upper lip, Cleft palate	OMIM:179400
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia	ORPHA:230839
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia, Lethargy	OMIM:274270
14Q24.1Q24.3 Microdeletion Syndrome	Dislocated radial head, Limited elbow extension and supination, Truncus arteriosus, Pulmonary art...	ORPHA:401935
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Spinal Muscular Atrophy, Type I	Spinal muscular atrophy, Proximal amyotrophy, Atrial septal defect, Ventricular septal defect, Pr...	OMIM:253300
Polysyndactyly With Cardiac Malformation	Stillbirth, Polyhydramnios, Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydacty...	OMIM:263630
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc...	ORPHA:732
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Buphthalmos, Retinal nonattachment, Remnants of the hyaloid vascular system, Hyph...	OMIM:221900
Dk1-Cdg	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia	ORPHA:91131
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Talipes, Clinodacty...	ORPHA:2557
Marbach-Rustad Progeroid Syndrome	Femur fracture, Pulmonary insufficiency, Ventricular septal hypertrophy, Short clavicles, Right b...	OMIM:619322
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Foveal Hypoplasia 2	Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation	OMIM:609218
Poland Syndrome	Aplasia of the pectoralis major muscle, Short ribs, Low posterior hairline, Aplasia/Hypoplasia of...	ORPHA:2911
Singleton-Merten Syndrome 2	Aortic valve stenosis, Arrhythmia	OMIM:616298
Radial-Renal Syndrome	Absent radius, Absent thumb	OMIM:179280
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Ring Chromosome 12 Syndrome	Breast hypoplasia, Abnormal 5th finger morphology, Hirsutism, Dystrophic toenail, Symphalangism o...	ORPHA:1439
2Q31.1 Microdeletion Syndrome	Sandal gap, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology...	ORPHA:251014
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Ovarian neoplasm, Abnormal fallopian tube morphology	ORPHA:145
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi...	OMIM:143095
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Genu recurvatum, Calcaneovalgus deformity, Mitral valve prolapse, Pes planu...	OMIM:225320
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Xk Aprosencephaly Syndrome	Polyhydramnios, Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect	ORPHA:3469
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Arrhythmia	OMIM:615084
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom...	ORPHA:2741
Adult Syndrome	Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Split hand, Sparse scalp hair, Absent ...	OMIM:103285
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Sandal gap, Short 2nd finger, 2-3 toe syndactyly, Achal...	OMIM:600987
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Meier-Gorlin Syndrome 4	Breast hypoplasia, Slender long bone, Genu recurvatum, Micrognathia, Patellar aplasia, Cryptorchi...	OMIM:613804
46,Xx Sex Reversal 1	Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis...	OMIM:400045
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Atrial flutter, Abnormal tricuspid valve morphology, Patent ductus arterio...	ORPHA:1330
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276575
Indomethacin Embryofetopathy	Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:1909
Camptobrachydactyly	Septate vagina	ORPHA:1319
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Aortic valve stenosis, Lower eyel...	ORPHA:363705
Rett Syndrome	Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,...	ORPHA:2839
Nemaline Myopathy 9	Polyhydramnios, Nemaline bodies, Arthrogryposis multiplex congenita, Micrognathia, Ventricular se...	OMIM:615731
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Clinodactyly of th...	OMIM:617877
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Lymphadenopathy, Elevated circulating...	OMIM:614034
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l...	OMIM:300106
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Familial Isolated Restrictive Cardiomyopathy	Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitation, Hypertrophic cardiomyo...	ORPHA:75249
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Congenital Fibrinogen Deficiency	Prolonged prothrombin time, Abnormal bleeding, Microphthalmia, Gingival bleeding, Internal hemorr...	ORPHA:335
Adult Syndrome	Breast hypoplasia, Finger syndactyly, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Spli...	ORPHA:978
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tapered finger, Apla...	ORPHA:476126
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:276621
Cardiac-Valvular Ehlers-Danlos Syndrome	Sandal gap, Mitral valve prolapse, Left ventricular hypertrophy, Pulmonary insufficiency, Aortic ...	ORPHA:230851
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Cardiomyopathy, Pericarditis, Telangiec...	ORPHA:93672
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Retinopathy, Macular atrophy, Optic disc pallor	OMIM:616171
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Absent phalangeal crease, Ulnar deviation of the hand or of fingers of the ha...	OMIM:601680
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Coarctation of aorta, Absent thumb, Patent ductus arteriosus, Ventricul...	OMIM:300514
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ...	ORPHA:158029
Dextrocardia	T-wave inversion, Abnormal EKG	ORPHA:1666
Sonoda Syndrome	High axial triradius, Ventricular septal defect	OMIM:270460
Van Bogaert-Hozay Syndrome	Micrognathia, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand	OMIM:277150
Dopamine Beta-Hydroxylase Deficiency	Syncope, Orthostatic hypotension, Abnormal EKG, Orthostatic syncope	ORPHA:230
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Angina pectoris, Splenome...	ORPHA:79292
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Stillbirth, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, U...	OMIM:616300
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Roifman Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Noncompaction cardiomyopathy, Sh...	OMIM:616651
Shox-Related Short Stature	Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Skeletal muscle h...	ORPHA:314795
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Hyperbi...	ORPHA:464321
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Arrhythmia	OMIM:249270
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho...	OMIM:620662
49,Xyyyy Syndrome	Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Bridged palmar cre...	ORPHA:99330
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Microphthalmia, Isolated 6	Microphthalmia, Retinal fold	OMIM:613517
Al Amyloidosis	Gastrointestinal hemorrhage, Hypertrophic cardiomyopathy, Jaw claudication, Abnormal P wave, Arrh...	ORPHA:85443
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Hypoplastic iliac wing, Tibial bowing, Short distal phalanx of finger, Cone-shaped epiphysis, Ivo...	OMIM:210720
Idiopathic Pulmonary Arterial Hypertension	Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr...	ORPHA:275766
Carpenter Syndrome 1	Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Genu var...	OMIM:201000
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction	OMIM:620504
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Arrhythmia	ORPHA:480864
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Arrhythmia	OMIM:266500
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Cardiac Valvular Dysplasia 2	Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Pulmonic st...	OMIM:620067
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Polyhydramnios, I...	ORPHA:3144
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydrops fetalis, Polyhydramnios, Flared metaphysis, Wormian bones, Short ribs, Pleural effusion, ...	OMIM:616897
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Limited elbow movement, Osteolytic defects of the distal phalanges of th...	OMIM:614008
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Hip subluxation, Genu valgum, Multiple joint dislocation, Flat capital femoral epiphysis, Metaphy...	ORPHA:93360
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Hemolytic anemia	OMIM:612126
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopen...	ORPHA:79312
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Right bundle branch block, Mitral regurgitation, Tricuspid regurgitation	OMIM:619576
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Congenital diaphragmatic hernia, Elbow flexion ...	OMIM:200980
Infantile Refsum Disease	Cardiomyopathy, Arrhythmia	ORPHA:772
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Noncompaction cardiomyopathy, Abnormal left ventricular fun...	ORPHA:3208
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Cone/cone-rod dystrophy, Splenomegaly, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Glycogen Storage Disease Due To Aldolase A Deficiency	Arrhythmia	ORPHA:57
Pediatric-Onset Graves Disease	Congestive heart failure, Atrial fibrillation, Sinus tachycardia, Hypertension, Palpitations	ORPHA:525731
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Patent foramen ovale, Hypotension, Increased nuchal translucency, Long fing...	OMIM:615668
Hydrops Fetalis	Polyhydramnios, Capillary leak, Lymphedema, Pleural effusion, Ascites, Generalized edema, Pericar...	ORPHA:1041
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Ambiguous genitalia, female, Fused labia minora	ORPHA:2975
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Del...	OMIM:304120
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Clinodactyly of the 5th finger, Ulnar bowing, Proximal radio-ulnar synostosis, Shallow acetabular...	OMIM:605432
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ...	OMIM:601927
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Tachycardia	ORPHA:324575
Li-Campeau Syndrome	Patellar hypoplasia, Single transverse palmar crease, Patent foramen ovale, Patent ductus arterio...	OMIM:619189
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Non-midline cleft of the upper lip, Cleft palate, Lip pit	ORPHA:1072
Refsum Disease	Pes cavus, Abnormal foot morphology, Heart block, Hammertoe, Cardiomyopathy, Short metacarpal, Sk...	ORPHA:773
Chromosome 2Q37 Deletion Syndrome	Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short t...	OMIM:600430
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Atrioventricular canal defect, Vascular dilatation, Abnormal pul...	ORPHA:500
Lethal Recessive Chondrodysplasia	Polyhydramnios, Flared elbow metaphyses, Micromelia, Micrognathia, Limb undergrowth, Edema	ORPHA:1423
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Arrhythmia	ORPHA:352447
Meacham Syndrome	Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho...	ORPHA:3097
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Abnormal bleeding, Gastrointestinal hemorrhage, Biliary tract ...	ORPHA:79301
Meier-Gorlin Syndrome 3	Breast hypoplasia, Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal os...	OMIM:613803
Martsolf Syndrome 1	Talipes valgus, Slender ulna, Talipes equinovarus, Short metacarpal, Low posterior hairline, Oste...	OMIM:212720
Refractory Anemia With Excess Blasts	Abnormal bleeding, Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal c...	ORPHA:86839
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Arrhythmia, Short thum...	ORPHA:2307
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Abnormality of retinal pigmentation, Thrombocytop...	ORPHA:290
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Systolic heart...	OMIM:617478
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Erythermalgia, Primary	Palpitations	OMIM:133020
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Lujo Hemorrhagic Fever	Myocarditis, Purpura, Elevated circulating C-reactive protein concentration, Bradycardia, Fulmina...	ORPHA:319213
Autoimmune Hypoparathyroidism	Ventricular arrhythmia, Abnormal left ventricular function, Prolonged QT interval	ORPHA:36913
Mitochondrial Trifunctional Protein Deficiency	Equinovarus deformity, Pes cavus, Congestive heart failure, Cardiomyopathy, Tricuspid regurgitati...	ORPHA:746
Recombinant Chromosome 8 Syndrome	Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, Micrognathia, Tetralogy of Fall...	OMIM:179613
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Patent ductus arteriosus, Unilateral breast hypoplasia, Tapered finger, Postaxial polydactyly, Hi...	OMIM:300968
Congenital Sialidosis Type 2	Abnormal EKG, Telangiectasia	ORPHA:93400
Vertical Talus, Congenital	Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity	OMIM:192950
Galloway-Mowat Syndrome 7	Cubitus valgus, Single transverse palmar crease, Arachnodactyly, Partial duplication of thumb pha...	OMIM:618348
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Abnormal aortic valve morphology, Hypertrophic cardiomyopathy, Camptoda...	ORPHA:1194
Neuropathy, Congenital, With Arthrogryposis Multiplex	Distal amyotrophy, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporeflexia of lower limb...	OMIM:162370
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Epiphyseal stippling	OMIM:614876
Joubert Syndrome 33	Cone/cone-rod dystrophy, Ataxia, Splenomegaly	OMIM:617767
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc...	ORPHA:88
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
American Trypanosomiasis	Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia	ORPHA:3386
Macular Dystrophy, Retinal, 3	Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ...	OMIM:608850
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Satoyoshi Syndrome	Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Sparse or ab...	ORPHA:3130
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Meier-Gorlin Syndrome 2	Breast hypoplasia, Slender long bone, Camptodactyly, Micrognathia, Patellar aplasia	OMIM:613800
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Membranous subvalvular aortic stenosis, Synostosis of...	ORPHA:3191
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Shor...	OMIM:114290
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Gait disturbance, Ataxia, Splenomegaly, Unsteady ga...	ORPHA:2585
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Flared metaphysis, Dislocated r...	OMIM:602471
Orofaciodigital Syndrome Xix	Narrow palate, Cleft soft palate, Midline notching of lower lip, High palate, Narrow mouth, Micro...	OMIM:620107
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Familial Hyperaldosteronism Type Iii	Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect, Polysyndactyly of hallux, Preaxial foot polydactyly	OMIM:235750
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Li-Ghorbani-Weisz-Hubshman Syndrome	Clinodactyly of the 5th finger, Patent ductus arteriosus, Overlapping toe, Atrial septal defect, ...	OMIM:618974
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Preaxial polydactyly, Bilateral talipes equinovarus, Postaxial polydactyly,...	OMIM:618142
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Arteriovenous malformation, Finger syndactyly, Cerebral ischemia, Foot polydactyly, Hand polydact...	ORPHA:60040
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Hypotension, Arrhythmia	ORPHA:188
3P25.3 Microdeletion Syndrome	Atrial septal defect, Proximal placement of thumb, Patent ductus arteriosus, Coronary artery athe...	ORPHA:435638
Phaver Syndrome	Triphalangeal thumb, Hypoplastic aortic arch, Pterygium, Pulmonary artery atresia, Broad thumb, C...	ORPHA:2876
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Tibial bowing, Femoral bowing, Short long bone, Bowing of t...	ORPHA:140
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepato...	OMIM:267700
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va...	OMIM:308240
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Leopard Syndrome 1	Limited elbow movement, Cubitus valgus, Scapular winging, Missing ribs, Hypertrophic cardiomyopat...	OMIM:151100
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomelia, Radiouln...	OMIM:163400
Pallister-Hall Syndrome	Mesoaxial polydactyly, Oligodactyly, Broad thumb, Polydactyly affecting the 3rd finger, Overlappi...	ORPHA:672
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Gait disturbance	ORPHA:88619
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morph...	ORPHA:507
Moebius Syndrome	Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, De...	OMIM:157900
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
W Syndrome	Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Camptodactyly, Metatarsus adductus, Radial bow...	ORPHA:2804
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, 11 pairs of ribs, Patellar hypoplasia, ...	OMIM:617604
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Petechiae, Hyperlipidemi...	ORPHA:79477
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Holzgreve Syndrome	Hand polydactyly, Abnormal morphology of ulna, Abnormal mesentery morphology, Abnormal metacarpal...	ORPHA:2167
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Partial anomalous pulmonary venous return, ...	OMIM:619343
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Breast hypoplasia, Camptodactyly, Long eyelashes, Cryptorchidism, Brachydacty...	OMIM:601353
Juberg-Hayward Syndrome	Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Hi...	ORPHA:2319
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Metaphyseal cupping of metacarp...	ORPHA:163966
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Hyperkalemia, Elevated circulating creatinine concentration, Anemia, Melena, Petechi...	ORPHA:340
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pap...	OMIM:607115
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Clinodactyly	ORPHA:357175
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Fibular hypoplasia, Hip subluxation, Cervical C2/C3 vertebral fusion, A...	ORPHA:444077
Acrocardiofacial Syndrome	Atrial septal defect, Abnormal metacarpal morphology, Joint dislocation, Finger syndactyly, Trunc...	ORPHA:2008
Cornelia De Lange Syndrome	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Short 1st metacarpal...	ORPHA:199
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia of the distal phalange...	ORPHA:94066
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Thrombocytopenia With Beta-Thalassemia, X-Linked	Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro...	OMIM:314050
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae...	ORPHA:824
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext...	ORPHA:239
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhage, Tachycardi...	ORPHA:449285
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Left ventricular outflow tract obstruction, Hypoplastic pulm...	OMIM:613854
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:29072
Ritscher-Schinzel Syndrome 1	Missing ribs, Pulmonic stenosis, Aortic valve stenosis, Micrognathia, Tetralogy of Fallot, Syndac...	OMIM:220210
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Neuroleptic Malignant Syndrome	Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e...	ORPHA:94093
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Auriculoosteodysplasia	Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the radius, Hip d...	ORPHA:114
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
16P12.1P12.3 Triplication Syndrome	Atrial septal defect, Abnormal tricuspid valve morphology, 2-3 toe syndactyly, Prominent fingerti...	ORPHA:485405
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia	OMIM:277400
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, Proximal placement of thumb, Neonatal death, Absent thumb, Short thumb,...	OMIM:613390
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase ...	OMIM:615181
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Atrioventricular canal defect, Short first metatarsal, Ulnar bowing, Epip...	OMIM:619135
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Abnormal vagina morphology, Cryptorchidism, Abnormality of the uterus, Streak ovary,...	OMIM:194072
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri...	OMIM:617866
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Atelosteogenesis, Type Iii	Widened distal phalanges, Rhizomelia, Tombstone-shaped proximal phalanges, Sandal gap, Hitchhiker...	OMIM:108721
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Chorioretinal coloboma	OMIM:120433
Jackson-Weiss Syndrome	Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, S...	ORPHA:1540
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal coloboma	ORPHA:1473
Carcinoid Syndrome	Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, Heart murmur, Palpitat...	ORPHA:100093
Cofs Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1466
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Hemochromatosis, Type 1	Congestive heart failure, Arrhythmia, Cardiomyopathy, Telangiectasia	OMIM:235200
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal...	OMIM:614851
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia	ORPHA:90674
19P13.12 Microdeletion Syndrome	Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Sandal gap, Aortic regu...	ORPHA:254346
Noonan Syndrome 8	Polyhydramnios, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Pulmoni...	OMIM:615355
Galactosemia Iii	Hypergalactosemia, Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Botulism	Arrhythmia	ORPHA:1267
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Camptodactyly, Arachnodactyly, Atrial septal defect, Ventricular septal def...	OMIM:301039
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Inability to walk, Bone-marrow foam cells,...	OMIM:257200
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Clinodactyly	OMIM:615162
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Short metacarpal, S...	OMIM:605282
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Alagille Syndrome	Hypoplasia of the ulna, Clinodactyly of the 5th finger, Hypertension, Micrognathia, Telangiectasi...	ORPHA:52
Waldenström Macroglobulinemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Lymphaden...	ORPHA:33226
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce...	ORPHA:231401
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Gjc2-Related Late-Onset Primary Lymphedema	Ankle swelling, Facial edema, Edema of the dorsum of hands, Hypoplasia of lymphatic vessels, Veno...	ORPHA:568051
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Breast hypoplasia, Alopecia of scalp, Triphalangeal thumb, Small pituitary gland, Aplasia of the ...	ORPHA:2232
Hepatoportal Sclerosis	Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja...	ORPHA:64743
Meconium Aspiration Syndrome	Pulmonary insufficiency, Pulmonary arterial hypertension, Abnormal heart rate variability	ORPHA:70588
Acrootoocular Syndrome	Short finger, Sandal gap, Abnormality of facial musculature, Short metacarpal, Small thenar emine...	ORPHA:2980
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	ORPHA:2438
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Prolonged QT interval, Cardiomyopathy, Broad thumb, Postaxial ha...	ORPHA:373
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Wa...	ORPHA:2788
Bohring-Opitz Syndrome	Fixed elbow flexion, Joint dislocation, Bradycardia, Facial hypotonia, Metacarpophalangeal joint ...	ORPHA:97297
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Immune-Mediated Necrotizing Myopathy	Myocarditis, Palpitations, Raynaud phenomenon, Congestive heart failure	ORPHA:206569
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Ataxia	OMIM:278780
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Uveal Melanoma	Vitreous hemorrhage, Abnormal fundus morphology, Retinal detachment	ORPHA:39044
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Abnormal thumb morphology, Talipes, Radial club hand, Sandal gap, Short h...	ORPHA:959
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Arthrogryposis multiplex congenita, Micrognathia, Skeletal muscle atrophy, Edema,...	OMIM:607598
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Mucopolysaccharidosis Type 3	Genu valgum, Abnormal aortic valve morphology, Cardiomegaly, Reduced left ventricular ejection fr...	ORPHA:581
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Fused labia minora, Vaginal atresia, Hypoplastic labia majora	OMIM:207410
Aymé-Gripp Syndrome	Rocker bottom foot, Breast hypoplasia, Clinodactyly of the 5th finger, Patent ductus arteriosus, ...	ORPHA:1272
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Andersen Cardiodysrhythmic Periodic Paralysis	Short mandibular rami, Clinodactyly of the 5th toe, Prolonged QT interval, Prominent U wave, Shor...	OMIM:170390
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Bicuspid aortic valve, Left ventricular systolic dysfunction, Polyhydramnios, Ventricular bigemin...	OMIM:620519
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Bacterial endocarditis, Clubbing, Transient ischemic atta...	ORPHA:2038
Denys-Drash Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Ambiguous genitalia, female, Male pseudohermaphrod...	OMIM:194080
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Encephalocele, Hirsutism, Short long bone, Bowing of the long bones...	OMIM:224400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Sheehan Syndrome	Palpitations, Orthostatic hypotension, Bradycardia	ORPHA:91355
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Broad thumb, Sh...	OMIM:620073
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Abnormal femur morphology, Rhizomelia, Pterygium, Elbow dislocati...	ORPHA:93329
Kagami-Ogata Syndrome	Polyhydramnios, Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Long fingers...	OMIM:608149
Birk-Barel Syndrome	Short philtrum, High palate, Bifid uvula, Submucous cleft soft palate, Tented upper lip vermilion	OMIM:612292
Char Syndrome	Clinodactyly of the 5th finger, Mesoaxial foot polydactyly, Symphalangism of the 5th finger, Shor...	ORPHA:46627
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Rhizomelia, Proximal placement of thumb, Bowing of the long bones...	ORPHA:93267
Kyphomelic Dysplasia	Ulnar bowing, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Pterygium, Tibial bowing...	OMIM:211350
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Short distal phalanx of finger, Truncus arteriosus, Ventricular septal defect	OMIM:601355
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Mic...	ORPHA:246
Wound Botulism	Cardiac arrest	ORPHA:178475
Foodborne Botulism	Arrhythmia	ORPHA:228371
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Osteolytic defects of the phalang...	ORPHA:280365
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Neurooculocardiogenitourinary Syndrome	Abnormality of the palmar creases, Patent foramen ovale, Tricuspid regurgitation, Patent ductus a...	OMIM:618652
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, P...	ORPHA:100080
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Cardiomyopathy, Arrhythmia	ORPHA:228305
Schneckenbecken Dysplasia	Stillbirth, Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Bilateral talipes...	OMIM:269250
Congenital Heart Defects, Multiple Types, 9	Pulmonic stenosis, Left axis deviation	OMIM:620294
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Bilateral single transverse palmar creases, Truncus arteriosus, Abnormal aortic morphology, Micro...	ORPHA:2516
3M Syndrome	Rocker bottom foot, Hypoplasia of the ulna, Abnormal metaphysis morphology, Clinodactyly of the 5...	ORPHA:2616
Classical-Like Ehlers-Danlos Syndrome Type 2	Sandal gap, Arachnodactyly, Equinus calcaneus, Abnormal toe morphology, Dislocated wrist, Mitral ...	ORPHA:536532
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Ventricular septal defect, Clinodactyly of the 5th finger	OMIM:618506
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Achondroplasia	Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi...	OMIM:100800
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Arrhythmia	ORPHA:171876
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femora...	OMIM:620076
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Postaxial polydactyly, Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial s...	OMIM:603387
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Fanconi Anemia, Complementation Group E	Complete duplication of thumb phalanx, Abnormal heart morphology, Absent thumb, Short thumb, Abse...	OMIM:600901
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Short femur, Amelia, Foot oligodactyly	OMIM:601357
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Dextrocardia, Micrognathia, Absent thumb, Brach...	ORPHA:96097
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
3-Methylglutaconic Aciduria, Type Viii	Neonatal death, Bradycardia	OMIM:617248
X Small Rings	Clinodactyly of the 5th finger, Upper limb undergrowth, Aortic root aneurysm, 2-3 toe syndactyly,...	ORPHA:96201
Ritscher-Schinzel Syndrome 2	Clinodactyly of the 5th finger, Prominent fingertip pads, Camptodactyly, Pulmonary artery hypopla...	OMIM:300963
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Clinodactyly of the 5th finger, 2-3 toe syndactyly, 4-5 finger syndactyly, Mi...	OMIM:617201
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormal fallopian tube morphology, Abnormality of the uterus, Vaginal atresia, Cryptorchidism, M...	ORPHA:1655
Cranioectodermal Dysplasia 1	Bicuspid aortic valve, Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad toe, Tri...	OMIM:218330
Spinocerebellar Ataxia, Autosomal Recessive 21	Limb ataxia, Hepatomegaly, Gait ataxia, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:616719
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the ovary, Camptodactyly, Wide intermamillary distance, Decrease...	ORPHA:432
X-Linked Intellectual Disability, Hedera Type	Hypomimic face, Calcaneovalgus deformity, Left ventricular hypertrophy, Absent Achilles reflex, H...	ORPHA:93952
Coxoauricular Syndrome	Abnormal femur morphology, Hip dislocation, Abnormal pelvic girdle bone morphology, Micromelia	ORPHA:1508
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Ulnar bowing, Micromelia, Aplasia/Hypoplasia of the radius, Radial bowing	ORPHA:1765
Laubry-Pezzi Syndrome	Elevated pulmonary artery pressure, Congestive heart failure, Bicuspid aortic valve, Perimembrano...	ORPHA:99094
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Short foot	ORPHA:228399
Rhabdoid Tumor	Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocytopenia, Hypercalcemia, Neop...	ORPHA:69077
Acromesomelic Dysplasia 1	Limited elbow extension, Hypoplasia of the radius, Broad finger, Short metatarsal, Cone-shaped ep...	OMIM:602875
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Patent foramen ovale, Prominent fingertip pads, Increased nuchal translucency, Coarctation of aor...	OMIM:618494
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Bilateral single transverse palmar creases, Atrial septal defect, Partial anomalous pulmonary ven...	OMIM:619657
Anauxetic Dysplasia 1	Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os...	OMIM:607095
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Retinal dysplasia	ORPHA:324416
Fanconi Anemia, Complementation Group C	Complete duplication of thumb phalanx, Absent thumb, Short thumb, Flexion contracture, Absent rad...	OMIM:227645
Fabry Disease	Abnormality of the hand, Congestive heart failure, Ventricular septal hypertrophy, Angina pectori...	OMIM:301500
Ogden Syndrome	Torticollis, Delayed cranial suture closure, Pulmonary artery stenosis, Cardiogenic shock, Broad ...	ORPHA:276432
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Brachydactyly, Bicuspid aortic valve, Ventricular septal defect, Sh...	OMIM:617450
Vater/Vacterl Association	Hypoplasia of the radius, Preaxial polydactyly, Transposition of the great arteries, Triphalangea...	OMIM:192350
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Hypertrophic cardiomyopathy	ORPHA:368
Microphthalmia, Syndromic 13	Microphthalmia, Chorioretinal coloboma	OMIM:300915
Fibrous Dysplasia Of Bone	Abnormal femur morphology, Abnormal tibia morphology, Testicular neoplasm, Bowing of the long bon...	ORPHA:249
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited...	OMIM:277590
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Nephrotic Syndrome, Type 11	Arachnodactyly, Partial duplication of thumb phalanx, Micrognathia, Dilated cardiomyopathy, Ventr...	OMIM:616730
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Scalp-Ear-Nipple Syndrome	Aplasia/Hypoplasia of the nipples, Sparse hair, Breast aplasia	ORPHA:2036
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Atrial septal defect, Abnormal foot morphology, Sandal gap, Decreased/absent ankle reflexes, Aort...	ORPHA:477817
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Craniosynostosis, Abnormal vena cava morphology, Short metacarpal, Micrognathia, Heart murmur, Br...	ORPHA:166035
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Limb undergrowth, Complete atr...	OMIM:619142
Fanconi Anemia, Complementation Group A	Complete duplication of thumb phalanx, Abnormal heart morphology, Absent thumb, Short thumb, Abse...	OMIM:227650
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:254913
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Retinal peau d'orange, Choroidal neovascul...	OMIM:264800
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Micr...	ORPHA:1147
Camurati-Engelmann Disease	Genu valgum, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal tibia morphology,...	ORPHA:1328
Fanconi Anemia, Complementation Group D2	Absent radius, Aplasia of the 1st metacarpal, Partial duplication of thumb phalanx, Abnormal hear...	OMIM:227646
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly	ORPHA:391
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Petechiae, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia...	OMIM:619463
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia	OMIM:218700
Cinca Syndrome	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentra...	ORPHA:1451
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Arrhythmia	OMIM:106300
Joubert Syndrome 18	Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Trident pelvis, Ventricular septa...	OMIM:614815
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemi...	OMIM:603553
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Mosaic Trisomy 1	Rocker bottom foot, Congenital diaphragmatic hernia, Broad 2nd toe, Arachnodactyly, Long toe, Dev...	ORPHA:1692
Van Den Ende-Gupta Syndrome	Dislocated radial head, Femoral bowing, Short ribs, Arachnodactyly, Abnormal eyebrow morphology, ...	OMIM:600920
Hyperkalemic Periodic Paralysis	Congestive heart failure, Arrhythmia	ORPHA:682
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Pes cavus, Upper limb undergrowth, Short 3rd metacarpal, Lower...	OMIM:169400
Lissencephaly 8	Optic atrophy, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the radius, Hypoplastic left heart	ORPHA:2476
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
Otospondylomegaepiphyseal Dysplasia	Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Polyhydramn...	ORPHA:1427
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Abnormal bleeding, Acute myeloid leuke...	ORPHA:75564
Noonan Syndrome 5	Pulmonic stenosis, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:611553
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Equinovarus deformity, Triphalangeal thumb, Calcaneovalgus deformity, Congeni...	ORPHA:3078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Microphthalmia, Elevated circulating creatine kinase concentration, Left vent...	OMIM:613153
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal hip bone morphology, Abnormal aortic morphology, Microg...	ORPHA:1166
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Atrial septal defect, Parachute mitral valve, Patent foramen ovale, Ventricular septal defect, Pu...	OMIM:618316
Radial Ray Hypoplasia With Choanal Atresia	Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence	OMIM:179270
Duane Retraction Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu...	ORPHA:233
Keutel Syndrome	Short distal phalanx of finger, Pulmonary artery stenosis, Ventricular septal defect, Pulmonary a...	ORPHA:85202
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia	OMIM:609015
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Micrognathia, Arrhythmia, Tetralogy...	OMIM:153400
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Single transverse palmar crease...	OMIM:311900
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Clubbing of fingers, Cardiomyocyte hypertrophy, Palmoplantar hyperkerat...	OMIM:605676
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Woods Syndrome	3-4 finger cutaneous syndactyly, Single transverse palmar crease, Ventricular septal defect, Limi...	OMIM:615236
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Neonatal death, Ventricular septal defect, Congenital diaphragmatic hernia	OMIM:615524
Histiocytosis-Lymphadenopathy Plus Syndrome	Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic ste...	OMIM:602782
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Polyhydramnios, Hydrops fetalis, Limb undergrowth, Abnormal limb bone morphology	ORPHA:2204
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Adult-Onset Cervical Dystonia, Dyt23 Type	Supraventricular arrhythmia	ORPHA:420492
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Thin vermilion border, Thick lower lip vermilion, High palate, Bifid uvula, ...	OMIM:617412
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Short middle phalanx of the 4th finger, Limited pronation/supination of forearm, Hepatosplenomega...	OMIM:616738
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Triangular mouth, Dental crowding, Oligodontia, Gingival overgrowth, Abnormali...	OMIM:616331
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Shor...	OMIM:151210
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Right bundle branch block	OMIM:618590
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia	ORPHA:42
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Grant Syndrome	Joint dislocation, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Micrognathia...	ORPHA:2097
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Barth Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Arrhythmia, Incre...	OMIM:302060
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistax...	OMIM:214500
Kuskokwim Syndrome	Aplasia/Hypoplasia of the patella, Talipes, Aplasia/Hypoplasia of the radius	ORPHA:1149
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Robinow Syndrome, Autosomal Recessive 1	Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,...	OMIM:268310
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Esophageal atresia, Cleft soft palate	OMIM:614526
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly, V...	OMIM:272440
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly, ...	OMIM:611490
Cartilage-Hair Hypoplasia	Abnormal hip bone morphology, Tibial bowing, Cardiomyopathy, Mesomelia, Abnormal epiphysis morpho...	ORPHA:175
Lethal Congenital Contracture Syndrome 10	Hydrops fetalis, Torticollis, Short long bone, Femoral bowing, Increased variability in muscle fi...	OMIM:617022
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Abnormality of...	ORPHA:166002
Trigonocephaly With Short Stature And Developmental Delay	Lambdoidal craniosynostosis, Ventricular septal defect, Clinodactyly of the 5th finger, Sagittal ...	OMIM:314320
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Deviation of finger, Abnorm...	ORPHA:903
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Absent eyelashes, Absent eyebrow, Camptodactyly of finger, Aplasia/Hypoplasia ...	ORPHA:920
Atelis Syndrome 2	Microphthalmia, Anemia, Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, ...	OMIM:620185
Rheumatic Fever	Myocarditis, Pericarditis, Epistaxis, Arrhythmia	ORPHA:3099
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Manitoba Oculotrichoanal Syndrome	Vaginal atresia	OMIM:248450
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndac...	OMIM:617895
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Arterial dissection, Mitral valve prolapse, Patellar dislocation, Hip dislocation, Joint dislocat...	ORPHA:1900
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Dyrk1A-Related Intellectual Disability Syndrome	Polydactyly, Breast hypoplasia, Clinodactyly of the 5th finger, Acromesomelia, Anterior pituitary...	ORPHA:464306
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Vaginal atresia	ORPHA:3301
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100082
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Rocker bottom foot, Polyhydramnios, Deep palmar crease, Talipes equinovarus, Metopic synostosis, ...	OMIM:301056
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Larsen Syndrome	Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Ao...	OMIM:150250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ...	OMIM:271640
Parkes Weber Syndrome	Hemihypertrophy of lower limb, Spinal arteriovenous malformation, High-output congestive heart fa...	ORPHA:90307
Retinoblastoma	Retinoblastoma, Retinal calcification, Subretinal pigment epithelium hemorrhage, Hyphema, Abnorma...	ORPHA:790
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Optic disc pallor	OMIM:613730
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short ribs, Coarse metaphyseal trabecularization, Limb undergrowth, Metaphyseal widening, Brachyd...	OMIM:618961
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Fanconi Anemia	Abnormal femur morphology, Abnormality of the upper limb, Umbilical hernia, Hip dislocation, Hypo...	ORPHA:84
Hypophosphatemic Rickets, X-Linked Dominant	Genu valgum, Fibular bowing, Cupped metaphyses of hand bones, Tibial bowing, Femoral bowing, Abno...	OMIM:307800
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	OMIM:601794
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Polyhydramnios, Femoral bowing, Short ribs, Short long bone, Acetabular spu...	OMIM:615503
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Micrognathia, Ventricular septal defect	OMIM:608227
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal dystrophy, Retinal detachment, Chorioretinal coloboma, Buphthalmos, Macul...	OMIM:212550
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Osteogenesis Imperfecta, Type V	Anterior radial head dislocation, Hyperextensibility of the finger joints, Abnormal pelvic girdle...	OMIM:610967
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal cen...	ORPHA:277
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Congenital ...	OMIM:616266
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Short finger, Bradycardia, Delayed cranial suture closure, Delayed proximal femoral epiphyseal os...	ORPHA:226307
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Charge Syndrome	Absent tibia, Pulmonic stenosis, Abnormal palmar dermatoglyphics, Dysplastic tricuspid valve, Bif...	OMIM:214800
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to...	OMIM:613759
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor...	ORPHA:1457
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Rod-cone dystrophy, Retinal coloboma	ORPHA:363741
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Patent foramen ovale, Short long bone, Short palm, Brachy...	OMIM:619184
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu valgum, Fibular bowing, Rickets of the lower limbs, Delayed epiphyseal ossification, Tibial ...	OMIM:600785
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Macular edema, Normochromic anemia, Hypertension,...	ORPHA:247691
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Lambdoidal craniosynostosis, Ankle clonus, Restrictive cardiomyopathy, Pa...	OMIM:615398
Marshall Syndrome	Small distal femoral epiphysis, Small proximal tibial epiphyses, Clinodactyly of the 5th finger, ...	OMIM:154780
Chromosome 9P Deletion Syndrome	Clinodactyly of the 5th toe, Perimembranous ventricular septal defect, Atrial septal defect, Pate...	OMIM:158170
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Ventricular septal defect, Syndactyly	OMIM:602501
Aredyld Syndrome	Hepatomegaly, Abnormal pelvic girdle bone morphology, Sparse body hair, Splenomegaly, Brachydacty...	ORPHA:1133
Scrub Typhus	Myocarditis, Abnormal bleeding, Lymphadenopathy, Hypotension, Splenomegaly, Lethargy	ORPHA:83317
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect, Multiple suture craniosynostosis, Metopic suture patent to nasal root,...	ORPHA:3369
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia	OMIM:255120
Mucopolysaccharidosis, Type Ix	Submucous cleft hard palate, Bifid uvula	OMIM:601492
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, P...	ORPHA:98850
Stankiewicz-Isidor Syndrome	2-3 toe syndactyly, Truncus arteriosus, Micrognathia, Absent thumb, Short thumb, Patent ductus ar...	OMIM:617516
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Cutis Laxa, Autosomal Recessive, Type Iic	Atrial septal defect, Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Hip ...	OMIM:617402
Duplication Of Urethra	Epispadias, Clitoral hypertrophy, Penile hypospadias, Hypospadias, Bifid scrotum, Uterus didelphy...	ORPHA:237
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia	OMIM:614979
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Short long bone, Wide intermamillary distance, Metaphyseal irregularity, Short 4t...	OMIM:618019
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri...	ORPHA:99829
Carney Triad	Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia	ORPHA:139411
C Syndrome	Radial deviation of finger, Dislocated radial head, Postaxial hand polydactyly, Short metacarpal,...	OMIM:211750
Optic Atrophy 11	Optic atrophy, Optic nerve hypoplasia, Athetosis, Gait apraxia, Ataxia, Splenomegaly, Cherry red ...	OMIM:617302
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hypertension, Pleural effusion, Ascites, Pul...	OMIM:619573
Robinow Syndrome, Autosomal Recessive 2	Triangular mouth, Cleft soft palate, Gingival overgrowth, Abnormality of the dentition, Long phil...	OMIM:618529
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Gapo Syndrome	Breast hypoplasia, Hepatomegaly, Delayed cranial suture closure, Hypoplastic nipples, Sparse eyel...	OMIM:230740
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Elevated circulating C-reactive protein concentr...	OMIM:619644
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula	OMIM:619239
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Purpura, Jaundice, Hepatomegaly, Hemophagocytosi...	ORPHA:540
Cat-Eye Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:195
Gitelman Syndrome	Prolonged QT interval, Prominent U wave, Low-to-normal blood pressure, ST segment depression, Ven...	ORPHA:358
Kinsship Syndrome	Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Microgn...	OMIM:619297
Acute Promyelocytic Leukemia	Abnormal bleeding, Purpura, Anemia, Lymphadenopathy, Pancytopenia, Petechiae, Gingival bleeding, ...	ORPHA:520
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Brachydactyly, Patent ductus arteriosus, Ventricular septal defect, ...	OMIM:612938
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure, Talipes, Arteriovenous malformation, Venous insufficiency, Lower limb a...	ORPHA:137608
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega...	OMIM:256550
Cardiofaciocutaneous Syndrome	Dystrophic fingernails, Genu valgum, Deep palmar crease, Sparse or absent eyelashes, Cubitus valg...	ORPHA:1340
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Bilateral single transverse palmar creases, Hypoplastic iliac wing, Nonimmune hydrops fetalis, Ca...	OMIM:235510
Primary Unilateral Adrenal Hyperplasia	Palpitations, Hypertension, Epistaxis	ORPHA:231580
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Inverted Duplicated Chromosome 15 Syndrome	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tetralogy of Fallot, Brachydactyly, Ventricul...	ORPHA:3306
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Anorectal Anomalies	Rectovaginal fistula	OMIM:107100
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Enlarged polycystic ovaries, Delayed...	ORPHA:785
Endosteal Hyperostosis, Autosomal Dominant	Thickened cortex of long bones, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle...	OMIM:144750
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Heterotaxy, Visceral, 1, X-Linked	Short long bone, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right atrial isomerism, ...	OMIM:306955
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery atherosclerosis, Angina pectoris, Low-output congestive heart failure, Renal arte...	ORPHA:565612
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Microcephaly 30, Primary, Autosomal Recessive	Pierre-Robin sequence, Thin upper lip vermilion, Cleft soft palate	OMIM:620183
Chromosome 6Pter-P24 Deletion Syndrome	Rocker bottom foot, Clinodactyly of the 5th finger, Patent ductus arteriosus, Broad toe, Patent f...	OMIM:612582
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Single transverse palmar crease, Patent for...	ORPHA:329224
Bronchial Neuroendocrine Tumor	Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, Cardiogen...	ORPHA:97287
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Short-Rib Thoracic Dysplasia 12	Short finger, Polyhydramnios, Edema, Patent foramen ovale, Short ribs, Short long bone, Ventricul...	OMIM:269860
Mitochondrial Complex I Deficiency, Nuclear Type 29	Palpitations, Hypertrophic cardiomyopathy	OMIM:618250
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Ascites, Asplenia, Hypoplastic spleen	OMIM:602361
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Neonatal hyperbilirubin...	OMIM:618892
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect, Talipes equinovarus	OMIM:209770
Meckel Syndrome, Type 9	Occipital encephalocele, Limb undergrowth, Talipes equinovarus	OMIM:614209
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Retinal arterial tortuosity, Cardiomegaly, Splenic cyst, Retinal detachment, Inabil...	OMIM:620371
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Hypertension, Arachnodactyly, Craniosynos...	ORPHA:3342
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Abnormal heart morphology, Mi...	ORPHA:2847
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Atrial septal defect, Ascending tubular aorta aneurysm, Right bundle br...	OMIM:617403
Trisomy 1Q	Congenital diaphragmatic hernia, Long foot, Hydrops fetalis, Polyhydramnios, Increased nuchal tra...	ORPHA:261344
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo...	ORPHA:99050
Phacoanaphylactic Uveitis	Abnormal vitreous humor morphology, Cystoid macular edema, Vitreoretinopathy, Hyphema, Tractional...	ORPHA:209959
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Right bundle...	OMIM:617506
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Noonan Syndrome 10	Cubitus valgus, Ventricular septal defect, Pleural effusion, Hypertrophic cardiomyopathy, Increas...	OMIM:616564
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Ataxia, Splenomegal...	OMIM:619046
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Polyhydramnios, Rhizomelia, Sandal gap, Patent foramen ovale, Short rib...	OMIM:607143
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Elevated jugular venous pressure, Arthropathy, Arthritis, Cardiomyopath...	ORPHA:465508
Roifman Syndrome	Lymphadenopathy, Retinal dystrophy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia	ORPHA:353298
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,...	ORPHA:500159
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve...	OMIM:616878
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Clinodactyly of the 5th finger, Abnormal hip bone morphology, Tibial bowing, Bilateral talipes eq...	ORPHA:251028
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Abnormal lymph node morpholo...	ORPHA:85450
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Arthrogryposis, Distal, Type 5D	Limited elbow movement, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Limit...	OMIM:615065
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Retinal exudate, Retinal hemorrhage, Vasculitis in the skin, Punctat...	OMIM:192315
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Abnormal hip bone morphology,...	ORPHA:7
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Joubert Syndrome 22	Microphthalmia, Retinal dysplasia	OMIM:615665
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Solitary median maxillary central incisor, Delayed eruption of teeth,...	ORPHA:2712
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
19P13.3 Microduplication Syndrome	Pes cavus, Hip subluxation, Pulmonary arterial hypertension, Long fingers, Micrognathia, Hip dysp...	ORPHA:447980
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Hypoproteinemia, Cholestasis, Le...	OMIM:615895
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Pericarditis, Epistaxis, Arrhy...	ORPHA:727
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
16P11.2P12.2 Microdeletion Syndrome	Bilateral single transverse palmar creases, Proximal placement of thumb, Tricuspid regurgitation,...	ORPHA:261211
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Cleidocranial Dysplasia	Abnormal thumb morphology, Dystrophic fingernails, Genu valgum, Clinodactyly of the 5th finger, A...	ORPHA:1452
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Optic disc pallor, Pulmonary arterial hypertension	OMIM:300887
Diaphragmatic Hernia 4, With Cardiovascular Defects	Polyhydramnios, Clinodactyly of the 5th finger, 11 pairs of ribs, Finger syndactyly, Aortic root ...	OMIM:620025
Diamond-Blackfan Anemia 7	Polyhydramnios, Triphalangeal thumb, Secundum atrial septal defect, Tetralogy of Fallot, Short th...	OMIM:612562
3Mc Syndrome	Caudal appendage, Spina bifida occulta, Highly arched eyebrow, Bilateral cryptorchidism, Umbilica...	ORPHA:293843
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Short ribs, Pos...	OMIM:615630
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples	OMIM:129550
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regur...	ORPHA:2414
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Brachydactyly, Right ventricular hypertrophy, Short distal phalanx of finge...	OMIM:614261
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Delayed clos...	OMIM:610759
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Talipes, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Pulmonary ar...	ORPHA:1908
Larsen Syndrome	Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Abnormal epiphysis m...	ORPHA:503
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Amyloidosis, Familial Visceral	Hypertension, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Coffin-Siris Syndrome 7	Polyhydramnios, Clinodactyly of the 5th finger, Patent foramen ovale, Oligohydramnios, Brachydact...	OMIM:618027
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, Decreased testicular s...	OMIM:610644
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Genitopalatocardiac Syndrome	Transposition of the great arteries, Right aortic arch, Micrognathia, Double outlet right ventric...	OMIM:231060
Braddock-Carey Syndrome 1	Camptodactyly, Ventricular septal defect, Aortic valve prolapse, Clinodactyly, Talipes equinovaru...	OMIM:619980
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Cardiomyopathy, Arrhythmia	ORPHA:228308
Nephroblastoma	Neoplasm of the liver, Hypertension, Lymphadenopathy, Aniridia	ORPHA:654
Codas Syndrome	Abnormal pelvic girdle bone morphology, Short metacarpal, Congenital hip dislocation, Brachydacty...	ORPHA:1458
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Sinus tachycardia, Cardiomyopathy, Pulmonary arterial hypertension, Tric...	OMIM:253200
Fetal Trimethadione Syndrome	Bilateral single transverse palmar creases, Transposition of the great arteries, Micrognathia, Te...	ORPHA:1913
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, P...	ORPHA:549
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Congenital hem...	ORPHA:3202
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Triphalangeal thumb, Clinodactyly of the 5th finger, Patent ductus arteriosus, Short distal phala...	OMIM:220500
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Larsen-Like Syndrome	Clinodactyly of the 5th finger, Joint dislocation, Radial deviation of the 4th finger, Bipartite ...	OMIM:608545
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Hypotension, Pulmonic stenosis, Right ventricular failure, Cardiogenic shock,...	ORPHA:100078
Verheij Syndrome	Truncus arteriosus, Vertebral fusion, Short 5th finger, Ventricular septal defect, Clinodactyly, ...	OMIM:615583
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Aortic regurgitation, Sandal gap, Aortic an...	ORPHA:261330
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Arrhythmia	ORPHA:3220
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Trisomy X	Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Hip dysplasia	ORPHA:3375
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Craniometaphyseal Dysplasia, Autosomal Dominant	Flared metaphysis, Abnormal pelvic girdle bone morphology, Metaphyseal widening, Erlenmeyer flask...	OMIM:123000
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Single transverse palmar...	OMIM:244300
Congenital Primary Aphakia	Microphthalmia, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior segment of...	ORPHA:83461
Warburg Micro Syndrome 1	Optic atrophy, Microphthalmia	OMIM:600118
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Short ribs, Postaxial hand polydactyly, Pulmonary arterial hypertension, Patent ductus arteriosus...	ORPHA:2519
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Varicose veins, Lymphedema, Venous malformation	OMIM:613089
Lethal Congenital Contracture Syndrome 5	Elevated circulating creatine kinase concentration, Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Arrhythmia, Abnormal T-wave	ORPHA:2131
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
African Trypanosomiasis	Myocarditis, Congestive heart failure, Pericarditis, Arrhythmia, Third degree atrioventricular bl...	ORPHA:3385
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microphthalmia, Chorioretinal coloboma, Retinal dystrophy	ORPHA:231736
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate, Branchial fistula, Branchial cyst	OMIM:609166
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Rothmund-Thomson Syndrome Type 2	Finger symphalangism, Abnormal ulnar metaphysis morphology, Aplasia/hypoplasia involving bones of...	ORPHA:221016
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Clubbing, Postaxial h...	OMIM:619143
Oslam Syndrome	Radial deviation of finger, Clinodactyly, Radioulnar synostosis	OMIM:165660
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Vaginal atresia, Hypogonadism, Micropenis	OMIM:209900
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Short ribs, Cardiomy...	ORPHA:3472
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Broad thumb, Arachnodactyly, Toe syndactyly, Limb joint ...	ORPHA:505237
Sifrim-Hitz-Weiss Syndrome	Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Coarctation of aorta, Tetralogy ...	OMIM:617159
Insulin-Like Growth Factor I, Resistance To	Short finger, Radial deviation of finger, Sandal gap, Patent foramen ovale, Short foot, Micrognat...	OMIM:270450
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Stillbirth, Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus...	OMIM:119800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic arch morphology,...	ORPHA:96334
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Congenital hip dislocation, Tetralogy of Fallot, Paten...	ORPHA:2970
Primary Hyperoxaluria	Heart block, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Arterial occlusion	ORPHA:416
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl...	OMIM:271665
Suleiman-El-Hattab Syndrome	Polydactyly, Single transverse palmar crease, Patent foramen ovale, Brachydactyly, Microretrognat...	OMIM:618950
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly	OMIM:620296
Multiple Endocrine Neoplasia, Type Iia	Palpitations, Hypertension	OMIM:171400
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Clinodactyly of the 5th finger, Camptodactyly, Pulmonic stenosis, ...	OMIM:619123
Genetic Recurrent Myoglobinuria	Arrhythmia	ORPHA:99845
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Weill-Marchesani Syndrome 2	Short finger, Congestive heart failure, Flexion contracture of toe, Short metatarsal, Broad phala...	OMIM:608328
Double Outlet Right Ventricle	Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ...	ORPHA:3426
Gaucher Disease Type 1	Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Abnormal bleeding, Pa...	ORPHA:77259
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Polyhydramnios, Ventricular septal defect, Vascular dilatation	OMIM:219730
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Ataxia, Dysmetria	ORPHA:48431
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Proximal placement of thumb, Patent ...	OMIM:620113
Temtamy Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:1777
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypotension, Hypovolemia, Cardiogenic shock, Arrhythmia	ORPHA:31824
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar...	OMIM:618280
Weiss-Kruszka Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Single transverse palmar crease, Pro...	OMIM:618619
Aase-Smith Syndrome I	Ventricular septal defect, Flexion contracture, Talipes equinovarus, Slender finger	OMIM:147800
Marfan Syndrome	Narrow foot, Arachnodactyly, Equinus calcaneus, Mitral valve prolapse, Mitral annular calcificati...	OMIM:154700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ...	OMIM:617061
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Kury-Isidor Syndrome	Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,...	OMIM:619762
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative dis...	ORPHA:79456
Three M Syndrome 3	Prominent calcaneus, Slender long bone, Clinodactyly of the 5th finger, Hip dysplasia	OMIM:614205
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration, Microphthalmia, Elevated circulating creatine kinase concentration, Abnorma...	OMIM:615249
Gm1 Gangliosidosis	Abnormal metaphysis morphology, Congestive heart failure, Hydrops fetalis, Abnormal diaphysis mor...	ORPHA:354
Codas Syndrome	Genu valgum, Atrioventricular canal defect, Proximal placement of thumb, Polyhydramnios, Delayed ...	OMIM:600373
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Lymphadenopathy, Vasculitis, Ataxia, Peritonitis	ORPHA:343
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Bicuspid aortic valve, Short 5th finger, Overlapping toe, Hip dislocation, Abnormali...	ORPHA:508498
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,...	ORPHA:2473
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Hydrolethalus	Gingival cleft, Bifid uvula, Unilateral cleft lip, Cleft palate, Submucous cleft hard palate	ORPHA:2189
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, H...	OMIM:278000
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal lacunae, Chorioretinal dysplasia...	OMIM:152950
Three M Syndrome 2	Slender long bone, Scapular winging, Prominent calcaneus, Short 5th finger, Clinodactyly	OMIM:612921
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Short Stature-Micrognathia Syndrome	Rhizomelia, Skeletal muscle hypertrophy, 2-3 toe syndactyly, Broad femoral neck, Micrognathia, La...	OMIM:617164
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Ventricular septal defect, Micromelia	ORPHA:2772
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Clitoral hypertrophy, Long penis	OMIM:262190
Mosaic Trisomy 16	Patent ductus arteriosus, Single transverse palmar crease, Single coronary artery origin, Coarcta...	ORPHA:1708
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:618330
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Abnormal ulnar metaphysis morphology, Patellar hypoplasia, Metaphyseal stri...	ORPHA:221008
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Hypertension, Shor...	OMIM:210710
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Congenital hip disloc...	OMIM:263750
Severe Generalized Junctional Epidermolysis Bullosa	Bradycardia, Dehydration, Abnormal fingertip morphology, Mitten deformity, Edema, Dilated cardiom...	ORPHA:79404
Atelosteogenesis Type Ii	Sandal gap, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, U...	ORPHA:56304
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, 2-3 toe cutaneous syndactyly, Polyhydramnios, Clinodactyly of the 5th finger, Dilat...	OMIM:300998
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Pulmonic stenosis, Aortic valve...	OMIM:277600
Pseudohypoparathyroidism Type 1B	Prolonged QT interval	ORPHA:94089
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Abnormality of the hand, Abnormal foot morphology, Patent foramen ovale, Camptodactyly, Abnormal ...	ORPHA:369891
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Epistaxis, Splenomegaly, At...	ORPHA:167
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Cardiomyopathy, Elevat...	ORPHA:370959
Cartilage-Hair Hypoplasia	Limited elbow extension, Metaphyseal cupping, Femoral bowing, Abnormal pelvic girdle bone morphol...	OMIM:250250
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Clinodactyly of the 5th finger, Aortic regurgitation, Single transverse palmar crease...	OMIM:614114
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Nonimmune hydrops fetalis, Severely redu...	OMIM:620609
Trisomy 13	Bilateral single transverse palmar creases, Hydrops fetalis, Postaxial hand polydactyly, Ectrodac...	ORPHA:3378
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Ventricular septal defect, Myopathy	OMIM:616816
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
X-Linked Intellectual Disability, Nascimento Type	Pes cavus, Patent foramen ovale, Abnormal vena cava morphology, Pulmonary arterial hypertension, ...	ORPHA:163956
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Achondrogenesis, Type Ia	Stillbirth, Hypoplastic sacrum, Hypoplasia of the radius, Hydrops fetalis, Polyhydramnios, Talipe...	OMIM:200600
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Abnormal tibia morphology, Talipes, Split hand, Abnormal pericar...	ORPHA:1335
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Camptodacty...	OMIM:178110
Mosaic Trisomy 9	Rocker bottom foot, Deep plantar creases, Hydrops fetalis, Deep palmar crease, Dextrocardia, Poly...	ORPHA:99776
Chondrodysplasia-Difference Of Sex Development Syndrome	Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli...	ORPHA:1422
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen, Abnormal retina...	ORPHA:33276
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Ulnar deviation of the hand or of fingers of the hand, Calcaneovalgus deformity, Camptodactyly, A...	ORPHA:562528
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Radial deviation of finger, Sandal gap, Aortic valve stenosis, Syndactyly, Bicuspid aortic valve,...	OMIM:618164
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Abnormal foot morphology, Tapered toe, Antenatal intracerebral hemorrhage, Elbow flexion contract...	OMIM:608836
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Clinodactyly, Transposition of the great arteries...	OMIM:256520
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Chromosome 18Q Deletion Syndrome	Rocker bottom foot, Pes cavus, Congestive heart failure, Atrial septal defect, Proximal placement...	OMIM:601808
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Tapered finger, Broad thumb, Flexion contracture, Overlapping toe, Atrial septal defect, Ventricu...	OMIM:617452
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hydrops fetalis, Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Shor...	OMIM:263520
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Retinopat...	OMIM:603903
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Dextrotransposition of the great arteries, Brachydactyly, Ankle clonus, Ve...	OMIM:619995
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Prolonged prothrombin time, Bradykinesia, Jaundice, Hepatomegaly, Increased total iron binding ca...	ORPHA:309854
Bohring-Opitz Syndrome	Deep plantar creases, Polyhydramnios, Deep palmar crease, Joint dislocation, Dislocated radial he...	OMIM:605039
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Lymphedema-Distichiasis Syndrome	Arrhythmia	ORPHA:33001
Mgat2-Cdg	Hydrops fetalis, Reflex asystolic syncope, Abnormal heart morphology, Arrhythmia, Brachydactyly, ...	ORPHA:79329
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	OMIM:140000
Oculodentodigital Dysplasia	Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma...	ORPHA:2710
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dystrophy, Retinal dysplasia, Retinal detachment, Abnormal...	ORPHA:899
Baller-Gerold Syndrome	Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla...	ORPHA:1225
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Bilateral talipes equinovarus, Micrognathia, Absent thumb, Absent radius	OMIM:614083
Costello Syndrome	Polyhydramnios, Hypertrophic cardiomyopathy, Thickened Achilles tendon, Pulmonic stenosis, Mitral...	ORPHA:3071
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Arterial tortuosity, Ventricular hypertrophy, Aortic tortuosity,...	OMIM:619656
Gray Platelet Syndrome	Abnormal bleeding, Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Splenomegaly...	OMIM:139090
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Atrial septal defect, Pes planus, Patent ductus arteriosus, Interrupted aorti...	ORPHA:163979
Basel-Vanagaite-Smirin-Yosef Syndrome	Pes cavus, Overlapping fingers, Atrial septal defect, Left superior vena cava draining to coronar...	ORPHA:464738
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Purpura, Petechiae, Vascu...	ORPHA:91138
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Clinodactyly of the 5th finger, Dextrocardia	OMIM:618067
Milroy Disease	Ankle swelling, Predominantly lower limb lymphedema, Lymphedema, Abnormal venous morphology, Vari...	ORPHA:79452
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Petechiae, Gingival bleeding, Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Sple...	OMIM:153670
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Neonatal death, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
3Mc Syndrome 1	Caudal appendage, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Patent ductus arte...	OMIM:257920
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Emanuel Syndrome	Congenital diaphragmatic hernia, Torticollis, Truncus arteriosus, Congenital hip dislocation, Pul...	OMIM:609029
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Down Syndrome	Sandal gap, Hypoplastic iliac wing, Clinodactyly, Patent foramen ovale, Pulmonary artery stenosis...	OMIM:190685
Buratti-Harel Syndrome	Velopharyngeal insufficiency, Submucous cleft hard palate, Bifid uvula, High palate	OMIM:619314
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Reduced haptoglobin level, Hyperbilirubinemia, Anemia o...	OMIM:613673
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Noonan Syndrome 2	Abnormal coronary artery origin, Prominent fingertip pads, Cardiomyopathy, Pulmonic stenosis, Non...	OMIM:605275
Silver-Russell Syndrome	Clinodactyly of the 5th finger, Sandal gap, Abnormal appendicular skeleton morphology, Delayed cr...	ORPHA:813
Enlarged Parietal Foramina	Venous malformation, Short clavicles, Broad thumb, Abnormal cerebral vein morphology, Craniosynos...	ORPHA:60015
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent foramen ovale, Ventricular se...	OMIM:620570
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia	ORPHA:2874
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Patent foramen ovale, Absent thumb, Short thu...	OMIM:609053
Malignant Hyperthermia Of Anesthesia	Ventricular tachycardia, Supraventricular tachycardia, Premature ventricular contraction, High-ou...	ORPHA:423
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Limited elbow movement, Pulmonic stenosis, Short humerus, Syndac...	OMIM:134780
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Calcinosis, Metaphyseal striations, Aplasia/Hypoplasia of the patella, Ap...	ORPHA:2909
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricul...	ORPHA:100075
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic ...	OMIM:613812
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly	ORPHA:664
Juvenile Xanthogranuloma	Hyphema, Myeloproliferative disorder	ORPHA:158000
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal hip bone morphology, Missi...	ORPHA:1488
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Boutonneuse Fever	Lymphadenopathy, Petechiae, Vasculitis, Thrombocytopenia, Leukopenia, Cervical lymphadenopathy	ORPHA:83313
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate...	ORPHA:284169
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive pr...	OMIM:615688
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Double inlet left ventr...	OMIM:270100
Becker Nevus Syndrome	Unilateral breast hypoplasia	OMIM:604919
Warsaw Breakage Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Tetralogy of...	OMIM:613398
46,Xx Sex Reversal 5	Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ventricular septal defect, Hypo...	OMIM:618901
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, High palate, Protruding tongue, Wide mouth, Thick vermilion border, Submucous cl...	OMIM:618106
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f...	OMIM:149730
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone morphology, Limb undergrowth, Bro...	OMIM:166210
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ...	ORPHA:3186
Pierpont Syndrome	Microphthalmia	OMIM:602342
Craniofacioskeletal Syndrome	Atrial septal defect, Clinodactyly of the 5th finger, Interrupted aortic arch, Narrow iliac wing,...	OMIM:300712
Isolated Follicle Stimulating Hormone Deficiency	Gonadotropin deficiency, Bilateral breast hypoplasia, Decreased testicular size, Sparse pubic hai...	ORPHA:52901
Teebi Hypertelorism Syndrome 1	Aortic root aneurysm, Coronal craniosynostosis, Micrognathia, Broad palm, Atrial septal defect, V...	OMIM:145420
Schilbach-Rott Syndrome	Submucous cleft hard palate, Bifid uvula, Narrow mouth	OMIM:164220
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypotension, Arrhythmia	ORPHA:428
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Abnormal fibula morphology, Abnormal femur morphology, Abnormali...	ORPHA:2063
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Robinow Syndrome, Autosomal Dominant 3	Patent foramen ovale, Pulmonary artery atresia, Camptodactyly, Tricuspid regurgitation, Broad thu...	OMIM:616894
Clapo Syndrome	Macrodactyly, Hemihypertrophy of lower limb, Venous malformation, Lymphedema, Varicose veins, Hem...	ORPHA:168984
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Long penis, Premature the...	ORPHA:90795
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:90791
Burn-Mckeown Syndrome	Hypomimic face, 2-3 toe syndactyly, Micrognathia, Atrial septal defect, Ventricular septal defect	OMIM:608572
Dilated Cardiomyopathy With Ataxia	Dilated cardiomyopathy, Prolonged QT interval	ORPHA:66634
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema...	OMIM:616843
Delpire-Mcneill Syndrome	Ventricular septal defect, Hip dislocation	OMIM:619083
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Congenital Disorder Of Glycosylation, Type Iil	Peau d'orange, Postaxial polydactyly, Patent ductus arteriosus, Hip dysplasia, Atrial septal defe...	OMIM:614576
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the...	OMIM:265380
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Aica-Ribosiduria Due To Atic Deficiency	Clitoral hypertrophy, Fused labia minora	OMIM:608688
Filippi Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Clinodactyly of the 5th ...	ORPHA:3255
Meacham Syndrome	Stillbirth, Transposition of the great arteries, Partial anomalous pulmonary venous return, Dextr...	OMIM:608978
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Short long bone, Hypertension, Aortic valve s...	OMIM:139210
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Noonan Syndrome	Abnormal EKG, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:648
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Elevated circulating C-reactive p...	ORPHA:160
Yuan-Harel-Lupski Syndrome	Talipes valgus, Bicuspid aortic valve, Clinodactyly of the 5th finger, Sandal gap, Aortic root an...	OMIM:616652
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Tachycardia	ORPHA:71273
Localized Scleroderma	Sclerosis of finger phalanx, Vasculitis, Stroke, Arthritis, Upper limb asymmetry, Raynaud phenome...	ORPHA:90289
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Lambotte Syndrome	Ventricular septal defect, Preaxial foot polydactyly	OMIM:245552
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Short long bone, Bilateral talipes equinovarus, Patent ductus a...	OMIM:620454
Isolated Klippel-Feil Syndrome	Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Congenital muscular torticollis, V...	ORPHA:2345
Intellectual Disability, Buenos-Aires Type	Fine hair, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Umbilical hernia	ORPHA:3079
Specc1L-Related Hypertelorism Syndrome	Clinodactyly of the 5th finger, Patent ductus arteriosus, Finger syndactyly, Short toe, Tetralogy...	ORPHA:1519
Giant Cell Arteritis	Vasculitis, Cerebral ischemia, Pericarditis, Epistaxis, Arrhythmia, Sudden cardiac death	ORPHA:397
Gabriele-De Vries Syndrome	Breast hypoplasia, Decreased response to growth hormone stimulation test, Frontal upsweep of hair...	ORPHA:506358
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Diamond-Blackfan Anemia 12	Ventricular septal defect, Triphalangeal thumb	OMIM:615550
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hypertension, Hypoproteinemia...	OMIM:609049
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia...	OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ...	OMIM:601186
Agel Amyloidosis	Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia	ORPHA:85448
Woodhouse-Sakati Syndrome	Abnormal T-wave	OMIM:241080
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Finger syndactyly, Short clavicles, Short ribs, Split hand, Dias...	ORPHA:2092
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple...	ORPHA:2470
Loeys-Dietz Syndrome 5	Increased arm span, Atrial septal defect, Flexion contracture of toe, Aortic root aneurysm, Paten...	OMIM:615582
Nance-Horan Syndrome	Retinal detachment, Microphthalmia	ORPHA:627
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Choreoathetosis	OMIM:308350
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Atelosteogenesis Type I	Abnormal fibula morphology, Polyhydramnios, Rhizomelia, Joint dislocation, Short long bone, Micro...	ORPHA:1190
Cerebellar-Facial-Dental Syndrome	Abnormal T-wave	ORPHA:444072
Hadziselimovic Syndrome	Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven...	OMIM:612946
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Missing ribs, ...	OMIM:184705
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding	ORPHA:424019
Norrie Disease	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Hypoplasia of the iris, Bup...	OMIM:310600
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy	ORPHA:71212
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Heart And Brain Malformation Syndrome	Polyhydramnios, Limb hypertonia, Interrupted aortic arch, Prominent metopic ridge, Camptodactyly ...	OMIM:616920
Spondylo-Ocular Syndrome	Retinal detachment, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Broad thumb, Large hands, Brachydactyly, Ventricular ...	ORPHA:1770
Vertebral Hypersegmentation And Orofacial Anomalies	Submucous cleft hard palate, Unilateral cleft lip, Unilateral cleft palate	OMIM:619122
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angioid streaks of the fundus, Angina pectoris, Macular degeneration...	OMIM:177850
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Breast hypoplasia, Reduced circulating prolactin concentration, Anterior hypopituitarism, Hypopla...	ORPHA:2235
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, Abnormal pel...	OMIM:222765
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Postaxial hand polyda...	ORPHA:75389
Hemihyperplasia-Multiple Lipomatosis Syndrome	Macrodactyly, Foot polydactyly, 2-4 toe syndactyly, Abnormal venous morphology, Telangiectasia of...	ORPHA:276280
Retinoblastoma	Retinoblastoma, Retinal calcification, Leukemia, Vitreous hemorrhage, Vitritis	OMIM:180200
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, 2-3 toe syndactyly, Lower limb asymmetry, Postaxial polydactyly, ...	ORPHA:404440
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Intestinal malrotation, Velopharyngeal insufficiency, Cleft palate, Enamel...	OMIM:614701
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cholelithiasis, Anemia of ina...	ORPHA:231222
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Multiple Acyl-Coa Dehydrogenase Deficiency	Congestive heart failure, Cardiomyopathy, Arrhythmia	ORPHA:26791
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger...	OMIM:601356
Spondylocarpotarsal Synostosis Syndrome	Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ...	OMIM:272460
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Pulmonary arterial hypertension, Micrognathia, Rhabdomyolysis, Coarctation of aorta...	OMIM:614921
Arthrogryposis, Distal, Type 3	Submucous cleft hard palate, Bifid uvula, High palate, Cleft palate	OMIM:114300
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Apert Syndrome	Cryptorchidism, Vaginal atresia	OMIM:101200
Tatton-Brown-Rahman Syndrome	Talipes valgus, Tricuspid regurgitation, Sagittal craniosynostosis, Mitral regurgitation, Atrial ...	OMIM:615879
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Dehydration, Arthrogryposis multiplex congenita, Oligohydramnios, Micrognat...	OMIM:208085
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Abnormal aortic morphology,...	ORPHA:3405
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Cree Mental Retardation Syndrome	Cleft soft palate	OMIM:606851
Dyssegmental Dysplasia, Silverman-Handmaker Type	Hydrops fetalis, Encephalocele, Clubbing of fingers, Short ribs, Micromelia, Micrognathia, Abnorm...	ORPHA:1865
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency	ORPHA:745
Paget Disease Of Bone 2, Early-Onset	Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the long bones...	OMIM:602080
Chand Syndrome	Imperforate hymen	ORPHA:1401
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Deep plantar creases, Clinodactyly of the 5th finger,...	ORPHA:96167
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Catel-Manzke Syndrome	Genu valgum, Clinodactyly of the 5th finger, Dextrocardia, Joint dislocation, Single transverse p...	OMIM:616145
Noonan Syndrome 4	Polyhydramnios, Cubitus valgus, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atrial septal def...	OMIM:610733
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Aregenerative Anemia	Abnormal bleeding, Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD...	ORPHA:101096
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Hajdu-Cheney Syndrome	Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Patent ductus arter...	OMIM:102500
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia	OMIM:613885
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Atrial fibrillation, Cardiomyopathy, Elevated circulatin...	OMIM:300842
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Conical tooth, Delayed eruption of teeth, Abnormal dental enamel morphology,...	ORPHA:1071
Microphthalmia/Coloboma 12	Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob...	OMIM:120200
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Patchy alopecia, Abnorm...	OMIM:302960
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Emanuel Syndrome	Congenital diaphragmatic hernia, Multiple joint contractures, Truncus arteriosus, Abnormality of ...	ORPHA:96170
Seckel Syndrome 5	Clitoral hypertrophy, Cryptorchidism, Hypospadias	OMIM:613823
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Hydrocele testis	ORPHA:96181
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Rectovaginal fistula, Labial hypoplasia, Bicornuate uterus, Septate vagina	OMIM:300707
Transaldolase Deficiency	Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr...	OMIM:606003
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia, Methylmalonic acidemia, Retinal pigment epithelial mottling	OMIM:614105
Joubert Syndrome 14	Postaxial polydactyly, Hypertension, Ventricular septal defect, Intracranial hemorrhage	OMIM:614424
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Cleft palate, Thick vermilion border	ORPHA:250999
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe...	ORPHA:1112
Carnitine Palmitoyltransferase Ii Deficiency	Cardiomyopathy, Arrhythmia	ORPHA:157
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the hand, Oligodactyly, Ectrodactyly, Abnormal pelvis bone morphology, Camptodacty...	ORPHA:2273
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Microcytic anemia	OMIM:612379
Amish Lethal Microcephaly	Cleft soft palate	ORPHA:99742
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Brachytelephalangic Chondrodysplasia Punctata	Epiphyseal stippling of toe phalanges, Epiphyseal stippling, Calcaneal epiphyseal stippling, Shor...	ORPHA:79345
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Brachydactyly, Microretrognathia, Craniosynostosis, Atrial septal defec...	ORPHA:457193
Autosomal Dominant Keratitis	Bilateral microphthalmos, Corneal neovascularization, Aniridia, Hypoplastic iris stroma, Hypoplas...	ORPHA:2334
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Hepatomegaly, Lymphadenopathy, Ascites, Ataxia, Splenomegaly	ORPHA:36412
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Neuroblastoma	Abnormal bleeding, Anemia, Lymphadenopathy, Hypertension, Abdominal mass, Thrombocytopenia, Ataxi...	ORPHA:635
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullar...	OMIM:254450
Koolen-De Vries Syndrome	Patent ductus arteriosus, Aortic root aneurysm, Prominent fingertip pads, Ventricular septal defe...	OMIM:610443
Sitosterolemia 1	Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, ...	OMIM:210250
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypertrophic cardiomyopathy, Arrhythmia	OMIM:615471
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia	OMIM:273395
Seckel Syndrome 9	Congenital diaphragmatic hernia, Polyhydramnios, Pulmonary artery hypoplasia, Micrognathia, Atria...	OMIM:616777
Papillorenal Syndrome	Microphthalmia, Retinal detachment, Macular degeneration, Chorioretinal atrophy, Hypertension, Re...	OMIM:120330
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Micrognathia, Metaphyseal dysplasia, Brachydactyly, Metaphyseal chondrodysplasi...	OMIM:250410
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Maternal Phenylketonuria	Micrognathia, Bifid distal phalanx of the thumb, Abnormal heart morphology, Tetralogy of Fallot, ...	ORPHA:2209
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Clinodactyly of the 5th finger, Sandal gap...	OMIM:617602
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Ogden Syndrome	Left atrial enlargement, Sandal gap, Premature ventricular contraction, Bicuspid aortic valve, Ca...	OMIM:300855
Hennekam-Beemer Syndrome	Hypotension, Telangiectasia of the skin, Arrhythmia	ORPHA:2135
Pyruvate Dehydrogenase E1-Alpha Deficiency	Pes cavus, Talipes, Single transverse palmar crease, Limb undergrowth, Flexion contracture, Ventr...	ORPHA:79243
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Hypoplasia of the vagina, Aplasia of the ovary	ORPHA:3109
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl...	ORPHA:254892
Frank-Ter Haar Syndrome	Flared metaphysis, Patent foramen ovale, Short long bone, Wormian bones, Bowing of the long bones...	OMIM:249420
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus	ORPHA:1455
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Spl...	ORPHA:131
Feingold Syndrome 1	Tricuspid atresia, Polyhydramnios, Interrupted aortic arch, 2-3 toe syndactyly, Tricuspid stenosi...	OMIM:164280
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Ascites, Lymphedema, Mic...	OMIM:235255
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperextensibility of the finger joints, Ascending tubular aorta aneurysm, Broad thumb, Arachnoda...	OMIM:309520
Von Hippel-Lindau Disease	Myocarditis, Hypertension, Cardiomyopathy, Arrhythmia, Palpitations, Abnormal left ventricular fu...	ORPHA:892
Goldberg-Shprintzen Syndrome	Clinodactyly of the 5th finger, Aortic regurgitation, Limb hypertonia, Increased femoral antevers...	OMIM:609460
Ellis Van Creveld Syndrome	Situs inversus totalis, Genu valgum, Cubitus valgus, Atrioventricular canal defect, Dextrocardia,...	ORPHA:289
Temtamy Syndrome	Chorioretinal coloboma, Microphthalmia, Aortic regurgitation	OMIM:218340
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration, Retinal dystrophy	OMIM:616538
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Alg9-Cdg	Narrow greater sciatic notch, Short long bone, Abnormal heart morphology, Right ventricular dilat...	ORPHA:79328
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Hyper...	OMIM:618641
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Difficulty walking, Inability to walk, Gait disturbance, Retinal coloboma	OMIM:618571
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Rift Valley Fever	Hematemesis, Abnormal bleeding, Jaundice, Anemia, Melena, Gingival bleeding, Retinal hemorrhage, ...	ORPHA:319251
Teebi-Shaltout Syndrome	Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Camptodactyly, Metatarsus ...	OMIM:272950
Diamond-Blackfan Anemia 1	Hypoplasia of the radius, Congestive heart failure, Hypoplastic coccygeal vertebrae, 11 pairs of ...	OMIM:105650
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Difficulty walking, Increased blood pressure, Retinal dystrophy, Re...	ORPHA:90324
Oculodentodigital Dysplasia	Cubitus valgus, Joint contracture of the 5th finger, 4-5 finger syndactyly, Short middle phalanx ...	OMIM:164200
Dermatomyositis	Myocarditis, Vasculitis, Sinus tachycardia, Pulmonary arterial hypertension, Pericarditis, Telang...	ORPHA:221
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect, Postaxial hand polydactyly, Bowing of the long b...	OMIM:611134
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Pulmonary arterial hypertension, Aortic v...	ORPHA:210122
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Clitoral hypertrophy, Precocious puberty in females, Polycystic...	ORPHA:528
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac...	ORPHA:273
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:619053
Coffin-Siris Syndrome 4	Short phalanx of the 5th toe, Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Promin...	OMIM:614609
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Hypopigmentation of the fundus, Microphthalmia	ORPHA:163649
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency	ORPHA:743
Sotos Syndrome	Atrial septal defect, Long foot, Genu valgum, Muscular ventricular septal defect, Long phalanx of...	OMIM:117550
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Cohen Syndrome	Genu valgum, Clinodactyly of the 5th finger, Abnormal hip bone morphology, Sandal gap, Cubitus va...	ORPHA:193
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod...	OMIM:260920
Fliedner-Zweier Syndrome	Hypoplastic aortic arch, Bicuspid aortic valve, Pes planus, Hallux valgus, Ventricular septal defect	OMIM:620511
Harrod Syndrome	Arachnodactyly, Cryptorchidism, Abnormal pelvic girdle bone morphology, Abnormal shoulder morphology	ORPHA:2115
Microphthalmia/Coloboma 9	Retinal detachment, Macular coloboma, Microphthalmia	OMIM:615145
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Abnormal pelvic girdle bone mor...	ORPHA:3027
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Bent Bone Dysplasia Syndrome 1	Clitoral hypertrophy	OMIM:614592
19Q13.11 Microdeletion Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Congenital hip dislocation, Toe clinodactyly, ...	ORPHA:217346
Gapo Syndrome	Abnormal metaphysis morphology, Abnormal pelvic girdle bone morphology, Sparse eyelashes, Sparse ...	ORPHA:2067
Orofaciodigital Syndrome Type 2	Peg-shaped maxillary lateral incisors, Tongue nodules, High palate, Talon cusp, Agenesis of centr...	ORPHA:2751
Neurodegeneration And Seizures Due To Copper Transport Defect	Limb hypertonia, Tricuspid regurgitation, Cardiomegaly, Short femur, Short tibia, Talipes equinov...	OMIM:620306
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Skraban-Deardorff Syndrome	Pes cavus, Micrognathia, Ventricular septal defect, Right aortic arch	OMIM:617616
Adams-Oliver Syndrome 1	Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Pulmonar...	OMIM:100300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Elevated circulating creati...	OMIM:253800
Aspartylglucosaminuria	Hepatomegaly, Arthritis, Abnormal morphology of ulna, Splenomegaly, Umbilical hernia, Macroorchidism	ORPHA:93
Loeys-Dietz Syndrome	Vascular dilatation, Arterial tortuosity, Joint dislocation, Aortic aneurysm, Cardiac arrest, Art...	ORPHA:60030
Donohue Syndrome	Precocious puberty, Clitoral hypertrophy, Ovarian cyst, Long penis	OMIM:246200
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Chorioretinal coloboma, Retinal dystrophy, Anophthalmia	ORPHA:139471
Kallmann Syndrome	Breast hypoplasia, Anterior hypopituitarism, Decreased testicular size, Cryptorchidism, Gynecomastia	ORPHA:478
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Coarctation of aorta, Ventricular septal defect, Joint dislocation	OMIM:620210
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Dysosteosclerosis	Abnormal metaphysis morphology, Hypoplastic vertebral bodies, Ventricular septal defect, Coarse m...	ORPHA:1782
Mandibulofacial Dysostosis, Guion-Almeida Type	Proximal placement of thumb, Slender finger, Micrognathia, Preaxial hand polydactyly, Atrial sept...	OMIM:610536
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, High palate, Smooth philtrum, Long philtrum, Submucous cleft hard palate, An...	OMIM:612863
Hamamy Syndrome	Mitral regurgitation, Prolonged QRS complex	OMIM:611174
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Broad thumb...	ORPHA:1507
Meige Disease	Facial edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Lymphedema, Pleu...	ORPHA:90186
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Unilateral cleft palate, Wide mouth, Unilateral cleft lip, Submucous c...	OMIM:619103
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr...	OMIM:617099
Autoimmune Hepatitis	Cirrhosis, Jaundice, Gastrointestinal hemorrhage, Sclerosing cholangitis, Acute hepatitis, Spider...	ORPHA:2137
Tyshchenko Syndrome	Pulmonic stenosis, Polyhydramnios, Atrial septal defect, Ventricular septal defect	OMIM:615102
Pontocerebellar Hypoplasia, Type 8	Talipes valgus, Pes cavus, Patent foramen ovale, Arthrogryposis multiplex congenita, Ventricular ...	OMIM:614961
Proteus Syndrome	Hypertrophy of skin of soles, Venous malformation	OMIM:176920
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Clubbing, Split hand, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventri...	OMIM:600460
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angioid streaks of the fundus, Angina pectoris, Hypertension, Restri...	ORPHA:758
Keutel Syndrome	Premature fusion of phalangeal epiphyses, Epiphyseal stippling, Short hallux, Hypertension, Pulmo...	OMIM:245150
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Patent ductus arteriosus, Aortic root aneurysm, Ventricular hypertrophy, Increased nuchal translu...	OMIM:620654
Tbck-Related Intellectual Disability Syndrome	Broad finger, 11 pairs of ribs, Broad toe, 2-3 toe syndactyly, Diastasis recti, Prominent metopic...	ORPHA:488632
Fraser Syndrome 1	Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Vaginal atresia, Cryptorchidism, Micropenis	OMIM:219000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Polyhydramnios, Aortic regurgitation, Short foot, Aortic valve stenosi...	ORPHA:464311
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Chromosome 2P16.1-P15 Deletion Syndrome	Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Arachnodactyly, Joint contracture o...	OMIM:612513
Pseudotrisomy 13 Syndrome	Tricuspid atresia, 11 pairs of ribs, Dextrocardia, 2-3 toe syndactyly, Postaxial hand polydactyly...	OMIM:264480
Marshall-Smith Syndrome	Short mandibular rami, Prominent fingertip pads, Hypertension, Premature ventricular contraction,...	OMIM:602535
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Delayed eruption of teeth, Bifid uvula, Cleft palate, Submucous cleft hard p...	ORPHA:2780
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Abnormal thumb morphology, Long foot, Abnormal right ventricle morphology, Tibial bowing, Abnorma...	ORPHA:500095
Schwartz-Jampel Syndrome	Flexion contracture of toe, Wrist flexion contracture, Abnormal epiphysis morphology, Wormian bon...	ORPHA:800
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Incontinentia Pigmenti	Abnormal chorioretinal morphology, Congestive heart failure, Microphthalmia, Retinal detachment, ...	ORPHA:464
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Choroidal neovascularization, Normochromic anemia, Elevate...	ORPHA:91500
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Pontocerebellar Hypoplasia, Type 17	Limb hypertonia, Secundum atrial septal defect, Microretrognathia, Patent ductus arteriosus, Vent...	OMIM:619909
Mycophenolate Mofetil Embryopathy	Congenital diaphragmatic hernia, Hydrops fetalis, Foot polydactyly, Short palm, Micrognathia, Coa...	ORPHA:268249
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Tarsal synostosis, Muscular ventricular septal defect, Fused cer...	OMIM:157800
Woodhouse-Sakati Syndrome	Abnormal T-wave	ORPHA:3464
Kleefstra Syndrome	Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Arrhythmia, Bicuspid aortic...	ORPHA:261494
Serkal Syndrome	Pulmonic stenosis, Ventricular septal defect, Oligohydramnios, Congenital diaphragmatic hernia	ORPHA:139466
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Bone marrow hypocellularity, Microphthalmia	OMIM:301108
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Short philtrum, Smooth philtrum, Cleft soft palate	ORPHA:293725
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Short hard palate, High palate, Glossoptosis, Carious teeth, Cl...	OMIM:117650
Adams-Oliver Syndrome 2	Optic atrophy, Microphthalmia	OMIM:614219
Fanconi Anemia, Complementation Group S	Microphthalmia, Anemia, Ataxia	OMIM:617883
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligodontia, Exaggerated cupid's bow, Exaggerated median tongue furrow, High palate, Everted lowe...	OMIM:608670
Biotinidase Deficiency	Optic atrophy, Hepatomegaly, Hyperammonemia, Ataxia, Splenomegaly, Lethargy	OMIM:253260
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Stickler Syndrome, Type I	Submucous cleft hard palate, Bifid uvula, Pierre-Robin sequence, Cleft palate	OMIM:108300
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
De Barsy Syndrome	Hypoplastic aortic arch, Wormian bones, Prominent veins on trunk, Coxa vara, Congenital hip dislo...	ORPHA:2962
Dominant Beta-Thalassemia	Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure	ORPHA:231226
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Short greater sciatic notch, Short...	OMIM:312870
Currarino Syndrome	Septate vagina, Bicornuate uterus, Rectovaginal fistula	OMIM:176450
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia, Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilled...	OMIM:127000
Fraser Syndrome	Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher...	ORPHA:2052
Seckel Syndrome 2	Microphthalmia, Heart murmur	OMIM:606744
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane...	OMIM:615512
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Hip dysplasia, Dilated cardiomyopathy, Ventricular sep...	ORPHA:261250
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Vaginal atresia	OMIM:617088
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Muscle fiber atrophy, Weak...	OMIM:619542
Lambert Syndrome	Ventricular septal defect	ORPHA:1296
8Q24.3 Microdeletion Syndrome	Rocker bottom foot, Gastrointestinal hemorrhage, Abnormal heart morphology, Short 5th finger, Lon...	ORPHA:508488
Occipital Horn Syndrome	Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Aplastic clavicle, Coxa valga,...	ORPHA:198
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Livedoid Vasculopathy	Ischemic stroke, Abnormal foot morphology, Abnormal capillary morphology, Venous insufficiency, E...	ORPHA:542643
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Mediastinal lymphadenopathy, Lymphadenopathy, Right ventricul...	ORPHA:199241
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Oculoauricular Syndrome	Microphakia, Microphthalmia, Retinal detachment, Chorioretinal atrophy, Retinal coloboma, Cone/co...	OMIM:612109
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Renal Agenesis	Oligohydramnios, Hypertension, Ventricular septal defect, Talipes equinovarus	ORPHA:411709
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, 2-3 toe syndactyly, Pulmonary arterial hypertension, Atrial sept...	OMIM:616449
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Microphthalmia, Chorioretinal coloboma	OMIM:243310
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Periportal fibrosis, Hyperbilirubinemia, Ascites, Portal hypertension, He...	OMIM:251880
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Myoclonic-Astatic Epilepsy	Unsteady gait, Microphthalmia, Ataxia	ORPHA:1942
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the palmar creases, Calcaneovalgus deformity, Vertebrobasilar dolichoectasia, Prom...	ORPHA:521445
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Ataxia, S...	OMIM:616084
8Q22.1 Microdeletion Syndrome	Long philtrum, Submucous cleft hard palate, Abnormality of the dentition	ORPHA:178303
Warburg Micro Syndrome 4	Optic atrophy, Microphthalmia, Inability to walk	OMIM:615663
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Reduced left ventricular ejection fraction, Cardiomyopathy, Pulmonary arterial hypertension, Arrh...	ORPHA:258
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Thauvin-Robinet-Faivre Syndrome	Long foot, Varicose veins, Long hallux, Large hands, Mitral valve prolapse, Pes planus, Ventricul...	OMIM:617107
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Adams-Oliver Syndrome	Cirrhosis, Gastrointestinal hemorrhage, Microphthalmia, Ascites, Portal hypertension, Pulmonary a...	ORPHA:974
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pulmonary arterial hypertension, Polycythe...	ORPHA:2905
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation, Abn...	ORPHA:83454
Intellectual Developmental Disorder, Autosomal Dominant 73	Widely spaced teeth, Thick lower lip vermilion, Cleft soft palate, Increased overbite, Short phil...	OMIM:620450
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hyper...	ORPHA:79126
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Arrhythmia	ORPHA:163746
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Joubert Syndrome 37	Microphthalmia, Hepatomegaly	OMIM:619185
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia	ORPHA:1438
Noonan Syndrome 9	Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect	OMIM:616559
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Microphthalmia, Chorioretinal coloboma	ORPHA:494344
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Single transverse palmar crease, Histiocytoid cardiomyopathy, Ar...	OMIM:309801
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Flat acetabular roof, Ca...	OMIM:216340
Cockayne Syndrome	Optic atrophy, Microphthalmia, Hepatomegaly, Difficulty walking, Inability to walk, Retinal dystr...	ORPHA:191
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Menkes Disease	Abnormal metaphysis morphology, Abnormal carotid artery morphology, Gastrointestinal hemorrhage, ...	ORPHA:565
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulati...	OMIM:614643
Spondyloepimetaphyseal Dysplasia, Shohat Type	Flared metaphysis, Short ribs, Central vertebral hypoplasia, Vertebral hypoplasia, Micromelia, Co...	OMIM:602557
Congenital Syphilis	Myocarditis, Optic atrophy, Purpura, Pancreatitis, Anemia, Lymphadenopathy, Petechiae, Chorioreti...	ORPHA:499009
Otodental Syndrome	Microphthalmia, Lens coloboma, Retinal coloboma	ORPHA:2791
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Polyhydramnios, Camptodactyly, Atrial septal defect, Ventricular septal defect, Clinodactyly	OMIM:617360
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Delayed eruption of teeth, Dental crowding, Narrow mouth, Bifid uvula, Submuco...	OMIM:300990
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High, narrow palate, Widely spaced teeth, Cleft soft palate, Short philtrum, Ankyloglossia, Micro...	OMIM:619950
Chime Syndrome	Pulmonary valve atresia, Transposition of the great arteries, Aplasia/Hypoplasia of the phalanges...	ORPHA:3474
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit...	ORPHA:231214
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Robinow Syndrome	Fused thoracic vertebrae, Pulmonary valve atresia, Atrial septal defect, Tricuspid atresia, Mesom...	ORPHA:97360
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Hypoplasia of the radius, Clinodactyly of the 5th finger, Aortic regurgitation, Pulmonary artery ...	ORPHA:140952
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Micrognathia, Tetralogy of Fallot, ...	ORPHA:1727
Q Fever	Myocarditis, Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal left ventricular function, ...	ORPHA:781
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia, Retinal vascular tortuosity, Accessory spleen	OMIM:243605
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Ascites, Left-to-right shunt, Broad thumb, Syndactyly, Edema, Po...	OMIM:619534
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia	OMIM:610125
Trichohepatoneurodevelopmental Syndrome	Polyhydramnios, Fibular bowing, Clinodactyly of the 5th finger, Patent ductus arteriosus, Bilater...	OMIM:618268
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of hallux, Pes cavus, Proximal placement of thumb, Sandal ...	OMIM:613458
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Absent thumb, Short thumb, Atrial septal defect, Ventricular septal defect	OMIM:610832
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Microphthalmia, Hypotriglyceridemia, Retinal atrophy, Cone/cone-rod dystrophy, ...	ORPHA:85167
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Pa...	OMIM:618454
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Ataxia, Pigmentary retinopathy	OMIM:610651
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Beck-Fahrner Syndrome	Facial hypotonia, Hip dysplasia, Cardiomegaly, Pes planus, Ventricular septal defect	OMIM:618798
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Native American Myopathy	High palate, Downturned corners of mouth, Bifid uvula, Cleft palate, Submucous cleft soft palate	ORPHA:168572
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Loeys-Dietz Syndrome 3	Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm...	OMIM:613795
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Gastrointestinal hemorrhage, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Anemia	OMIM:617244
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Phelan-Mcdermid Syndrome	Palpebral edema, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Lymphedema, Micrognathia, La...	OMIM:606232
Diabetic Embryopathy	Transposition of the great arteries, Abnormal aortic morphology, Micrognathia, Tetralogy of Fallo...	ORPHA:1926
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Difficulty walking, Cardiomyopathy, Ele...	OMIM:610717
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Hip dysplasia, Ventricular sep...	OMIM:613404
Radio-Tartaglia Syndrome	Pes cavus, Micrognathia, Brachydactyly, Pes planus, Ventricular septal defect, Tapered finger	OMIM:619312
Marbach-Schaaf Neurodevelopmental Syndrome	Downturned corners of mouth, Submucous cleft hard palate, Thin upper lip vermilion	OMIM:619680
Behçet Disease	Gastrointestinal hemorrhage, Pancreatitis, Lymphadenopathy, Aortic regurgitation, Vasculitis, Opt...	ORPHA:117
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone...	OMIM:608940
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Pagod Syndrome	Sudden cardiac death, Arrhythmia	ORPHA:991
Warburg Micro Syndrome 3	Optic atrophy, Microphthalmia, Inability to walk	OMIM:614222
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Inability to walk, Ataxia, Splenomegaly, Conjugated hyperbi...	OMIM:608885
Orofaciodigital Syndrome V	Sandal gap, Postaxial hand polydactyly, Postaxial polydactyly, Tetralogy of Fallot, Ventricular s...	OMIM:174300
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis, Telangiectasia of the ...	ORPHA:99812
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat...	OMIM:187300
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Cubitus valgus, Aortic regurgitation, Epiphyseal stippling, Single transverse pa...	OMIM:614866
Mucopolysaccharidosis Type 2, Severe Form	Diaphyseal undertubulation, Abnormal tricuspid valve morphology, Abnormal heart valve morphology,...	ORPHA:217085
Farber Disease	Anemia, Lymphadenopathy, Macular degeneration, Intrahepatic cholestasis with episodic jaundice, A...	ORPHA:333
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hypertensio...	OMIM:232220
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Kid Syndrome	Corneal neovascularization, Delayed pubic bone ossification, Patellar hypoplasia, Arthritis, Equi...	ORPHA:477
Methimazole Embryofetopathy	Polyhydramnios, Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology	ORPHA:1923
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Alagille Syndrome 1	Hypoplasia of the ulna, Stroke, Renal artery stenosis, Coarctation of aorta, Tetralogy of Fallot,...	OMIM:118450
Pelvis-Shoulder Dysplasia	Microphthalmia, Optic disc coloboma	OMIM:169550
3Q29 Microduplication Syndrome	Craniosynostosis, Sandal gap, Camptodactyly of toe, Toe syndactyly, Ventricular septal defect	ORPHA:251038
Oculoauriculofrontonasal Syndrome	Micrognathia, Ventricular septal defect	ORPHA:398156
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Palpebral edema, Tricuspid regurgitation, Camptodactyly of toe, Camptod...	ORPHA:261337
Common Variable Immunodeficiency	Purpura, Lymphadenopathy, Vasculitis, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoim...	ORPHA:1572
Costello Syndrome	Deep plantar creases, Limited elbow movement, Rhabdomyosarcoma, Deep palmar crease, Lymphangiecta...	OMIM:218040
Mucopolysaccharidosis Type 2, Attenuated Form	Diaphyseal undertubulation, Abnormal tricuspid valve morphology, Abnormal heart valve morphology,...	ORPHA:217093
Noonan Syndrome 1	Radial deviation of finger, Cubitus valgus, Chylothorax, Lymphedema, Hypertrophic cardiomyopathy,...	OMIM:163950
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Hammertoe, Sandal gap, Patent ductus arteriosus, Dextrocardia, Hypo...	OMIM:300166
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Palpitations, Biliary tract obstruction, Intrahepatic cholestasis with episodic jau...	ORPHA:100085
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Hyperbilirubinemia, Chronic hepatit...	ORPHA:39812
Noonan Syndrome 3	Tricuspid valve prolapse, Polyhydramnios, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulm...	OMIM:609942
Multiple Benign Circumferential Skin Creases On Limbs	Retinopathy, Congestive heart failure, Microphthalmia	ORPHA:2505
Monosomy 18P	Microphthalmia, Hypertension	ORPHA:1598
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Submucous cleft hard palate, Bifid uvula	OMIM:617660
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Sandal gap, 3-4 finger cutaneous syndactyly, Ventricular septal ...	OMIM:612530
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Chops Syndrome	Cervical C2/C3 vertebral fusion, Patent foramen ovale, Anomalous pulmonary venous return, Brachyd...	OMIM:616368
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar...	ORPHA:71493
Glutaryl-Coa Dehydrogenase Deficiency	Athetosis, Ataxia, Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Micro Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Retinal coloboma	ORPHA:2510
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Kawasaki Disease	Myocarditis, Congestive heart failure, Vasculitis, Abnormal heart valve morphology, Ascending tub...	ORPHA:2331
Cornelia De Lange Syndrome 6	Atrioventricular canal defect, Clinodactyly of the 5th finger, Pulmonary artery atresia, Arachnod...	OMIM:620568
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Arachnodactyly, Long toe, Ventricular septal d...	ORPHA:96129
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Microphthalmia, Inability to walk, Broad-based gait, Retinal coloboma, Hyphema, Ao...	ORPHA:261552
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Tooth malposition, Failure of eruption of permanent teeth, Bifid uvula, Cleft palate, Submucous c...	ORPHA:2250
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
17Q24.2 Microdeletion Syndrome	Pulmonic stenosis, Prolonged QT interval	ORPHA:529962
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ...	ORPHA:353277
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Cleft palate, Wide mouth, Abnormal parotid gland morphology	OMIM:154500
Trichothiodystrophy 3, Photosensitive	Abdominal adhesions, Microphthalmia, Neutropenia, Lymphopenia	OMIM:616395
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Cubitus valgus, Epiphyseal stippling, Single transverse palmar crease, Ulnar ...	OMIM:214100
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Kapur-Toriello Syndrome	Microphthalmia, Retinal coloboma	ORPHA:2328
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Ret...	OMIM:236670
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Myhre Syndrome	Thin vermilion border, Gingival cleft, Narrow mouth, Bifid uvula, Unilateral cleft lip, Cleft pal...	ORPHA:2588
Wiskott-Aldrich Syndrome	Hematemesis, Vasculitis, Internal hemorrhage, Epistaxis, Hematochezia, Intracranial hemorrhage, A...	ORPHA:906
Koolen-De Vries Syndrome Due To A Point Mutation	Pes cavus, Atrial septal defect, Craniosynostosis, Aortic aneurysm, Joint dislocation, Prominent ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pes cavus, Atrial septal defect, Craniosynostosis, Aortic aneurysm, Joint dislocation, Prominent ...	ORPHA:363958
Familial Mediterranean Fever	Pericarditis, Arrhythmia, Myocardial infarction, Vasculitis	ORPHA:342
Jacobsen Syndrome	Talipes, Finger syndactyly, Missing ribs, Toe clinodactyly, Aortic valve stenosis, Hand polydacty...	ORPHA:2308
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	2-3 toe syndactyly, Bilateral talipes equinovarus, Equinus calcaneus, Atrial septal defect, Progr...	ORPHA:522077
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Polyhydramnios, Limb undergrowth, Patent ductus arteriosus	OMIM:618005
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Partial absence of toe, Absent frontal sinuses, Wormian bones, Bowing o...	ORPHA:955
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Increased circulating thyroglobulin concentration, Pancreatic hypopla...	OMIM:610199
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Patent foramen ovale, Congenital hip dislocation, Contracture of...	ORPHA:457279
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion	OMIM:214300
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Proximal placement of thumb, Mesomelia, Talipes calcaneovalgus, ...	ORPHA:818
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cerebral ischemia, Perica...	ORPHA:900
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Den Hoed-De Boer-Voisin Syndrome	Sandal gap, 2-3 toe syndactyly, Ventricular septal defect, Oligohydramnios, Short foot, Small hand	OMIM:619229
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Abnormal ...	ORPHA:3261
Meckel Syndrome	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Accessory spleen, Anophthalmia,...	ORPHA:564
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma	ORPHA:1553
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Tyrosinemia, Type I	Prolonged prothrombin time, Cirrhosis, Hepatomegaly, Anemia, Gastrointestinal hemorrhage, Melena,...	OMIM:276700
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Synostosis of the proximal...	OMIM:300967
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Partial anomalous pulmonary venous return, Talipes, Tapered fing...	OMIM:301044
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Hypertension, Overlapping toe, Talipes calcaneovalgus, Hip dislocati...	OMIM:270400
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Atrial septal defect, Broad distal phalanx of finger, Abnormal proximal phalanx morphology of the...	ORPHA:353281
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Pulmonic stenosis, Microphthalmia, Lens coloboma	OMIM:618914
Fryns Syndrome	Rocker bottom foot, Stillbirth, Polyhydramnios, Proximal placement of thumb, Chylothorax, Single ...	OMIM:229850
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Talipes, Ascending tubular aorta aneurysm, Pleural effusion, Promi...	ORPHA:453499
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Imperforate hymen, Hematocolpos, Chordee, Cryptorchidism, Hydrocele testis	OMIM:619522
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
X-Linked Lissencephaly With Abnormal Genitalia	Micrognathia, Ventricular septal defect, Patent ductus arteriosus	ORPHA:452
Arboleda-Tham Syndrome	Sandal gap, Lower limb amyotrophy, Pulmonic stenosis, Lower limb hypertonia, Upper limb amyotroph...	OMIM:616268
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo...	ORPHA:261183
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Lower limb asymmetry, Venous malformation, Sandal gap	OMIM:612918
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Dextrocardia, Coronary artery fistula, Long fingers, Ventricular...	OMIM:614294
Beaulieu-Boycott-Innes Syndrome	Micrognathia, Ventricular septal defect, Patent ductus arteriosus	OMIM:613680
Trisomy 18	Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Abnormal hip bone mo...	ORPHA:3380
Cornelia De Lange Syndrome 1	Limited elbow extension, Hypoplasia of the radius, Congenital diaphragmatic hernia, Clinodactyly ...	OMIM:122470
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Radial deviation of finger, Talipes equinovarus, Absent...	OMIM:301040
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Hydrolethalus Syndrome 1	Stillbirth, Polyhydramnios, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of ph...	OMIM:236680
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation	OMIM:611561
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Cherubism	Marcus Gunn pupil, Macular scar, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Submucous cleft soft palate, Cleft soft palate	ORPHA:2282
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Flared metaphysis, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Thickened cort...	OMIM:620558
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Talipes valgus, Atrial septal defect, Clinodactyly of the 5th finger, Abnormal left ventricle mor...	ORPHA:466791
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Cardiac arrest, Eosinophilia, Hepatitis	ORPHA:139402
Desmosterolosis	Narrow mouth, Intestinal malrotation, Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:35107
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Limb Body Wall Complex	Congenital diaphragmatic hernia, Ectopia cordis, Aplasia/hypoplasia involving bones of the upper ...	ORPHA:2369
Joubert Syndrome 2	Microphthalmia, Retinal dystrophy, Ataxia, Chorioretinal coloboma, Optic disc coloboma	OMIM:608091
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia	OMIM:619227
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Short ribs, Short metacarpal, Split foot,...	OMIM:305600
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Patent ductus arteriosus	OMIM:218350
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Kaufman Oculocerebrofacial Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Congenital hip dislocation, Meta...	OMIM:244450
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Amelia, Micrognathia, Microretrognathia, Ventricular septal defect	OMIM:618021
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Acute Generalized Exanthematous Pustulosis	Purpura, Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
16P13.11 Microdeletion Syndrome	Camptodactyly of finger, Metatarsus valgus, Atrial septal defect, Ventricular septal defect, Tali...	ORPHA:261236
Degcags Syndrome	Pulmonic stenosis, Syndactyly, Craniosynostosis, Polydactyly, Patent foramen ovale, Pulmonary art...	OMIM:619488
Zellweger Syndrome	Clitoral hypertrophy, Cryptorchidism, Hypospadias	ORPHA:912
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Abnormal...	ORPHA:77293
Brucellosis	Myocarditis, Purpura, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Arteritis, Elevated c...	ORPHA:1304
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:610338
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Ambiguous genitalia, Clitoral hypertrophy	ORPHA:543470
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra...	OMIM:101400
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Cleft palate, Pierre-Robin sequence, Open mouth, Submucous cleft ha...	OMIM:192430
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Hip osteoarthritis, Flexion contracture of digit, Abnormal h...	ORPHA:580
Riddle Syndrome	Gait disturbance, Conjunctival telangiectasia, Ataxia, Elevated circulating alpha-fetoprotein con...	ORPHA:420741
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Ataxia, Choreoathetosis, Telangiectasia	OMIM:278730
Oculocerebrofacial Syndrome, Kaufman Type	Clitoral hypertrophy	ORPHA:2707
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Triphalangeal thumb, Abnormality of the upper limb, Partial d...	ORPHA:124
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio...	OMIM:263200
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Cryptorchidism	OMIM:214110
Viss Syndrome	Rocker bottom foot, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurr...	OMIM:619472
Orofaciodigital Syndrome Type 4	Orofacial cleft, High, narrow palate, Rectovaginal fistula, Short philtrum, Perineal fistula, Ana...	ORPHA:2753
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Long foot, Transposition of ...	OMIM:280000
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Microang...	ORPHA:93552
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Hypermobile Ehlers-Danlos Syndrome	Abnormal foot morphology, Abnormality of the wrist, Joint dislocation, Venous insufficiency, Aort...	ORPHA:285
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal dystrophy, Retinal detachment, Anophtha...	ORPHA:2526
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Developmental And Epileptic Encephalopathy 89	Clitoral hypertrophy, Hypoplastic labia minora, Hypoplastic labia majora	OMIM:619124
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Polyhydramnios, Deep palmar crease, Aortic regurgitation, Cubitus valgus, Hypertrophic cardiomyop...	OMIM:607721
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:619769
Isolated Biliary Atresia	Prolonged prothrombin time, Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, ...	ORPHA:30391
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Calcinosis, Lip telangiectasia, Hyperbilirub...	OMIM:613471
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemic attac...	ORPHA:3260
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal...	ORPHA:95699
Marden-Walker Syndrome	Situs inversus totalis, Abnormal anatomic location of the heart, Muscular dystrophy, Talipes, Dex...	ORPHA:2461
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Cubitus valgus, Aortic aneurysm, Single tr...	ORPHA:96121
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Inability to walk, Hypokalemia, Hypocalcemia, Hypertension, Hyponatrem...	OMIM:617913
H Syndrome	Hypertriglyceridemia, Enlarged kidney, Lymphadenopathy, Abnormal cardiovascular system physiology...	ORPHA:168569
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Vasculitis, Leukocytosis,...	ORPHA:32960
Granulomatosis With Polyangiitis	Retinal hemorrhage, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Granulomatosis	OMIM:608710
Cockayne Syndrome B	Optic atrophy, Microphthalmia, Hepatomegaly, Hypertension, Hypoplasia of the iris, Ataxia, Spleno...	OMIM:133540
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Long fibula	ORPHA:935
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g...	OMIM:600001
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Microphthalmia	OMIM:241410
Genitopatellar Syndrome	Small scrotum, Clitoral hypertrophy, Cryptorchidism	ORPHA:85201
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Neu-Laxova Syndrome	Abnormality of the philtrum, Everted lower lip vermilion, Bifid uvula, Cleft palate, Thick vermil...	ORPHA:2671
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum, Ventricular septal defect	OMIM:617798
Branchioskeletogenital Syndrome	Thin vermilion border, Short philtrum, Rootless teeth, Premature loss of teeth, Abnormal dentin m...	ORPHA:1299
Chromosome 14Q11-Q22 Deletion Syndrome	Hip subluxation, Patent foramen ovale, Prominent metopic ridge, Micrognathia, Mesomelia, Patent d...	OMIM:613457
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Flexion contracture of toe, Cardiomegaly, Clubbing of fingers, Elbow fl...	OMIM:256040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Ischemic stroke, Corneal neovascularization, Microphthalmia, Elevated circulating creatine kinase...	OMIM:175780
Meier-Gorlin Syndrome 5	Long philtrum, Submucous cleft hard palate, Thick vermilion border	OMIM:613805
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte...	ORPHA:567
Cardiofaciocutaneous Syndrome 1	Dental malocclusion, Open bite, High palate, Abnormality of the dentition, Thick vermilion border...	OMIM:115150
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Blau Syndrome	Large vessel vasculitis, Anemia, Lymphadenopathy, Hypertension, Pulmonary arterial hypertension, ...	ORPHA:90340
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microphthalmia	OMIM:234050
Holoprosencephaly	Congenital diaphragmatic hernia, Talipes, Abnormal aortic morphology, Hand polydactyly, Tetralogy...	ORPHA:2162
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Atrial septal defect, Talipes, Short metatarsal, Triphalangeal thumb...	OMIM:107480
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Accessory spleen, Portal hypertension, Pulmonary arterial hypertension, S...	OMIM:620005
Genitourinary And/Or Brain Malformation Syndrome	Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ...	OMIM:618820
Congenital Disorder Of Glycosylation, Type Iia	Proximal placement of thumb, Slender long bone, Pes planus, Ventricular septal defect, Coxa valga	OMIM:212066
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Hypocalcemia, Pulmonary arterial ...	ORPHA:667
Peters-Plus Syndrome	Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Pulmon...	OMIM:261540
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal retinal morphology	OMIM:610758
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Pes planus, Micrognathia, Ventricular septal defect, Sagittal craniosynostosis	OMIM:616901
Transketolase Deficiency	Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Atrial septal defect, ...	ORPHA:488618
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Short finger, Polyhydramnios, Clinodactyly of the 5th finger, Lower-limb joint contracture, Singl...	ORPHA:459070
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Anophthalmia, Retinopathy, Ataxia, Splenomegaly	OMIM:615636
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Trichohepatoenteric Syndrome 1	Polyhydramnios, Aortic regurgitation, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal ...	OMIM:222470
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Hypoplasia of the iris, Ataxia, Hypoalbuminemia	OMIM:251300
Trichinellosis	Abnormal optic nerve morphology, Central retinal artery occlusion, Lethargy, Retinal hemorrhage	ORPHA:863
Williams Syndrome	Abnormal carotid artery morphology, Hypertension, Cerebral ischemia, Pulmonic stenosis, Mitral va...	ORPHA:904
Hyperparathyroidism-Jaw Tumor Syndrome	Shortened QT interval	ORPHA:99880
Congenital Tracheomalacia	Partial anomalous pulmonary venous return, Right aortic arch, Pulmonary arterial hypertension, Do...	ORPHA:95430
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Clinodactyly of the 5th finger, Cerebral hemorrhage, Patent ductus arteriosus, Overlapping toe, P...	OMIM:616682
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Increased nuchal translucency	OMIM:617635
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation	OMIM:603194
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Gastrointestinal hemorrhage, Lymphadenopathy, Abnormality of th...	ORPHA:538
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Va...	OMIM:615846
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri...	ORPHA:2255
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Gait disturbance	OMIM:620098
Rabson-Mendenhall Syndrome	Polydactyly, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Macroglossia	ORPHA:769
Down Syndrome	Bilateral single transverse palmar creases, Atrioventricular canal defect, Clinodactyly of the 5t...	ORPHA:870
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L...	OMIM:610655
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bilateral single transverse palmar creases, Atrioventricular canal defect, Clinodactyly of the 5t...	ORPHA:3047
Hardikar Syndrome	Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal varix, Unilateral cleft pala...	OMIM:301068
Parathyroid Carcinoma	Shortened QT interval	ORPHA:143
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Pseudohypoparathyroidism Type 1C	Prolonged QT interval	ORPHA:79444
Mosaic Trisomy 20	Fused cervical vertebrae, Limited pronation/supination of forearm, Micrognathia, Clinodactyly, Ab...	ORPHA:1724
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T...	ORPHA:31150
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Diastasis recti, Polyhydramnios, Abnormal heart morphology, Ventricular septal defect	ORPHA:254534
Phace Association	Optic atrophy, Optic nerve hypoplasia, Microphthalmia, Increased retinal vascularity	OMIM:606519
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Median cleft palate, Cleft palate, Submucous cleft har...	OMIM:301043
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Pulmonary arterial hypertension, Persistent left superior v...	OMIM:615067
Lateral Meningocele Syndrome	Aortic aneurysm, Wormian bones, Micrognathia, Decreased muscle mass, Patent ductus arteriosus, Bi...	OMIM:130720
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Abnormal pelvic girdle bone morphology, Splenomegaly, Aplasia of the thymus, Growth...	OMIM:102700
Sympathetic Ophthalmia	Retinal detachment, Vitreous floaters, Depigmented fundus, Retinal hemorrhage, Papilledema, Macul...	ORPHA:79098
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism	OMIM:614527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Atrial septal defect, Lambdoidal craniosynostosis, Aortic aneurysm, Type 1 muscle fiber atrophy, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Atrial septal defect, Lambdoidal craniosynostosis, Aortic aneurysm, Type 1 muscle fiber atrophy, ...	ORPHA:352665
Fanconi Anemia, Complementation Group F	Microphthalmia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:603467
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormal retinal morphology, Vasculit...	ORPHA:228123
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext...	ORPHA:90794
Hallermann-Streiff Syndrome	Microphthalmia, Hypertension, Pulmonary arterial hypertension, Chorioretinal coloboma, Optic disc...	OMIM:234100
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of femur, Multiple joint contractures, Metaphyseal chondromatosis of t...	ORPHA:99646
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia	OMIM:614225
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, 3-4 fi...	OMIM:619727
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, 11 pairs of ribs, Patent ductus arteriosus	ORPHA:77298
Coffin-Siris Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Short 5th finger, Atria...	ORPHA:1465
Microphthalmia, Lenz Type	Microphthalmia, Chorioretinal coloboma, Optic disc coloboma	ORPHA:568
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Clinodactyly of the 5th finger, Pulmonary artery stenosis, Short middle ...	OMIM:301030
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Dubowitz Syndrome	Delayed eruption of teeth, High palate, Carious teeth, Velopharyngeal insufficiency, Thick vermil...	OMIM:223370
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short sternum, Ventricular septal defect, Diaphragmatic eventration	OMIM:222448
Mullegama-Klein-Martinez Syndrome	Short philtrum, Submucous cleft of soft and hard palate, Bifid uvula, Cleft palate, Smooth philtr...	OMIM:301022
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Subretinal pigment epithelium hemorrhage, Abnormal circulating apolipoprotein concentration	ORPHA:357074
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Multiple joint dislocation, Internally rotated shoulders, Oligohydramnios, Transposition of the g...	OMIM:619503
Sarcoidosis	Heart block, Abnormal cardiac ventricular function, Portal hypertension, Arrhythmia, Ventricular ...	ORPHA:797
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Waardenburg Syndrome, Type 1	Aplasia of the vagina	OMIM:193500
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Abnormality of retinal pigmentation, Chorioret...	ORPHA:50
3Q29 Microdeletion Syndrome	Microphthalmia, Gait disturbance, Pulmonary arterial hypertension	ORPHA:65286
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
45,X/46,Xy Mixed Gonadal Dysgenesis	Tachycardia, Prolonged QT interval	ORPHA:1772
Stickler Syndrome	Genu valgum, Abnormal diaphysis morphology, Joint dislocation, Proximal femoral epiphysiolysis, A...	ORPHA:828
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Trichothiodystrophy	Multiple joint contractures, Joint dislocation, Clubbing, Cardiomyopathy, Hypoplasia of mandible ...	ORPHA:33364
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Palmoplantar keratoderma, 2-3 toe syndactyly, Ventricular septal defect, Patent ductus arteriosus	OMIM:106260
Zttk Syndrome	Aortic regurgitation, Flexion contracture, Patent ductus arteriosus, Craniosynostosis, Atrial sep...	OMIM:617140
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Short 5th finger, Delayed closure of the anterior fontanelle, Patent foram...	OMIM:607872
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Neonatal death, Patent ductus arteriosus, Metopic synostosis, Atrial sep...	OMIM:620024
Amoebiasis Due To Free-Living Amoebae	Arrhythmia	ORPHA:68
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Abnormal vitreous humor morphology, Retinal dysplasia, Retinal dystrophy, Anophth...	ORPHA:2556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal atrophy, Elevated circulating creatine ...	OMIM:253280
Sirenomelia	Sirenomelia, Aplasia/Hypoplasia of the radius, Absence of the sacrum	ORPHA:3169
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Pes cavus, Long foot, Genu valgum, Abnormal tibia morphology, Patent foramen ovale, Hypertrophic ...	ORPHA:363700
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Polyhydramnios, Hip dysplasia, Ventricular septal defect, Interr...	OMIM:618846
Rodrigues Blindness	Microphthalmia	OMIM:268320
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Humeroradial ...	OMIM:201750
Genitopatellar Syndrome	Atrial septal defect, Polyhydramnios, Knee flexion contracture, Inferior pubic ramus hypoplasia, ...	OMIM:606170
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Pigmentary retinopathy	OMIM:614230
Spondyloenchondrodysplasia With Immune Dysregulation	Purpura, Lymphadenopathy, T lymphocytopenia, Raynaud phenomenon, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Downturned corners of mouth, Smooth philtrum, Cleft soft palate	OMIM:619321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613150
Cockayne Syndrome A	Square pelvis bone, Hypoplastic iliac wing, Hypertension, Hypoplastic pelvis, Hip contracture, Ar...	OMIM:216400
Proteus Syndrome	Macrodactyly, Abnormality of the wrist, Sirenomelia, Clinodactyly of the 5th finger, Abnormal met...	ORPHA:744
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Microphthalmia, Hypertension	OMIM:617729
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonic stenosis, Microphthalmia, Left ventricular hypertrophy	OMIM:619148
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Microphthalmia, Thrombocytopenia, Chorioretinal coloboma, Macula...	OMIM:147791
Meckel Syndrome 14	Hepatic fibrosis, Microphthalmia, Mitral regurgitation, Tricuspid regurgitation	OMIM:619879
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia	OMIM:618727
Bardet-Biedl Syndrome	Hydrometrocolpos, Aplasia/Hypoplasia of the vagina, Hypoplasia of penis, Hypoplasia of the ovary,...	ORPHA:110
Okamoto Syndrome	Polydactyly, Talipes, Abnormal left ventricle morphology, Primum atrial septal defect, Prominent ...	ORPHA:2729
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Hypocalcemic seizures, Anemia, Retinal calcification, Papilledema, Hypo...	ORPHA:93325
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Aortic root aneurysm, Patent foramen ovale, Prominent metopic ri...	ORPHA:2745
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin lower lip vermilion, Microdontia, Deep philtrum, Wide mouth, Submucous cleft hard palate, Ma...	OMIM:619194
Dubowitz Syndrome	Rectal prolapse, Anal stenosis, Delayed eruption of teeth, High palate, Abnormality of the dentit...	ORPHA:235
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Fgfr2-Related Bent Bone Dysplasia	Clitoral hypertrophy	ORPHA:313855
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Abnormal dental enamel morphology, Bifid uvula, Wide mouth, Cleft palate, Th...	ORPHA:2658
Cutis Laxa, Autosomal Dominant 1	Congestive heart failure, Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, ...	OMIM:123700
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Patent ductus arteriosus	ORPHA:52055
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Micrognathia, Patent ductus arter...	OMIM:613309
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Polyhydramnios, Ventricular septal defect, Hematochezia	OMIM:243150
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Esophageal Atresia	Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Clinodactyly	ORPHA:1199
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Plague	Hematemesis, Arrhythmia, Hypotension, Tachycardia	ORPHA:707
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Clinodactyly of the 5th finger, Patent foramen ovale, Micrognathia, Syndactyly, Patent ductus art...	OMIM:616975
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, L...	ORPHA:2136
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Aortic valve stenosis, Edema of the dorsum of feet, Hip dislocat...	OMIM:601803
Wolf-Hirschhorn Syndrome	Short hallux, Single transverse palmar crease, Split hand, Metatarsus adductus, Radioulnar synost...	OMIM:194190
Orofaciodigital Syndrome Type 14	Deviation of the hallux, Aplasia of the epiglottis, Postaxial hand polydactyly, Duplication of ph...	ORPHA:434179
Igg4-Related Kidney Disease	Enlarged kidney, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Arteritis, Elevated circu...	ORPHA:449395
Syndromic Diarrhea	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, B...	ORPHA:84064
Paternal Uniparental Disomy Of Chromosome 6	Dehydration, Micrognathia, Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect, Oli...	ORPHA:96191
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Chorioretinitis, Pulmonary arterial hype...	OMIM:181000
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, He...	OMIM:304050
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Chromosome 13Q14 Deletion Syndrome	Clinodactyly of the 5th finger, Single transverse palmar crease, Patent foramen ovale, Micrognath...	OMIM:613884
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Pulmonary arterial hypertension, Unconjugated hyperbilirubinemia, Prolonged neona...	OMIM:620186
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Diamond-Blackfan Anemia 5	Ventricular septal defect	OMIM:612528
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Sandal gap, Dislocated radial he...	OMIM:135900
Acromelic Frontonasal Dysostosis	Midline facial cleft, Cleft upper lip, Cleft palate, Submucous cleft soft palate, U-Shaped upper ...	OMIM:603671
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Telangiectasia	OMIM:601675
Renpenning Syndrome 1	Pes cavus, Narrow foot, Situs inversus totalis, Clinodactyly of the 5th finger, Atrial septal def...	OMIM:309500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Transverse vaginal septum, Rectovaginal fistula, Cryptorchidism, Micropenis, Hypogonadotropic hyp...	OMIM:129900
Primary Sjögren Syndrome	Normocytic anemia, Purpura, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Arter...	ORPHA:289390
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Vacterl With Hydrocephalus	Microphthalmia, Abnormal optic nerve morphology, Anophthalmia	ORPHA:3412
Meckel Syndrome, Type 1	Microphthalmia, Accessory spleen, Asplenia, Bile duct proliferation, Splenomegaly, Elevated amnio...	OMIM:249000
Foix-Alajouanine Syndrome	Distal lower limb muscle weakness, Venous malformation, Arteriovenous fistula, Distal lower limb ...	ORPHA:79093
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Brain-Lung-Thyroid Syndrome	Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal d...	ORPHA:209905
Acrofacial Dysostosis, Cincinnati Type	Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Femoral bowing, Bicuspid aortic v...	OMIM:616462
Premature Aging Syndrome, Penttinen Type	Microphthalmia, Hypermyelinated retinal nerve fibers	OMIM:601812
Momo Syndrome	Bilateral microphthalmos, Chorioretinal coloboma	ORPHA:2563
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Polyhydramnios, Pulmonary artery ...	ORPHA:141127
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Cervical C2/C3 vertebral fu...	ORPHA:1780
Holoprosencephaly 2	Solitary median maxillary central incisor, Bilateral cleft palate, Median cleft palate, Bifid uvu...	OMIM:157170
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Transverse vaginal septum, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:604292
Orofaciodigital Syndrome Xiv	Preaxial polydactyly, Aplasia of the epiglottis, Short ribs, Postaxial hand polydactyly, Microgna...	OMIM:615948
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Early Infantile Epileptic Encephalopathy	Broad finger, Short finger, Ventricular septal defect, Broad phalanx of the toes	ORPHA:1934
Chikungunya	Abnormal bleeding, Lymphadenopathy, Petechiae, Gingival bleeding, Epistaxis, Raynaud phenomenon, ...	ORPHA:324625
Systemic Lupus Erythematosus	Lymphadenopathy, Hypertension, Retinopathy, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Hem...	ORPHA:536
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Labial hypertrophy, Polycystic ovaries	OMIM:608594
Fraser Syndrome 2	Microphthalmia, Hypoplasia of the thymus	OMIM:617666
Alport Syndrome	Clitoral hypertrophy	ORPHA:63
Tolchin-Le Caignec Syndrome	Narrow mouth, Submucous cleft hard palate, High palate	OMIM:618971
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Congestive heart failure, Palpebral edema, Genu valgum, Dilatation of the cerebral artery, Aortic...	OMIM:619475
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy, Intestinal bleeding	ORPHA:424016
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Vitreoretinopathy, Exudative retinopathy, Phthisis bulbi	OMIM:259770
Monosomy 9Q22.3	Retinopathy, Microphthalmia	ORPHA:77301
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Pulmonic stenosis, Arachnodactyly, Aortic valve stenosis, Abnormal heart morphology, Syndactyly, ...	ORPHA:261537
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Atrial septal defect, Retinal arteriolar tortuosity, Clinod...	OMIM:194050
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Pulmonary artery stenosis, Ventricular septal defect, Oligohydra...	OMIM:611812
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Cerebrocostomandibular Syndrome	Micrognathia, Ventricular septal defect, Clinodactyly of the 5th finger	ORPHA:1393
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration...	ORPHA:449563
Leprechaunism	Clitoral hypertrophy, Long penis, Labial hypertrophy, Overgrowth of external genitalia, Enlarged ...	ORPHA:508
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Microphthalmia	OMIM:201180
Orotic Aciduria	Atrial septal defect, Ventricular septal defect	OMIM:258900
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Anemia, Hypokalemia, Hyponatremia, Thrombocytopenia, Hypophosphatemia, Buphthalmo...	ORPHA:534
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Hypotension, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Heart murmu...	ORPHA:100079
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Labial hypertrophy, Polycystic ovaries	OMIM:269700
Mowat-Wilson Syndrome	Pulmonic stenosis, Aortic valve stenosis, Abnormal heart morphology, Syndactyly, Bicuspid aortic ...	ORPHA:2152
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Pes cavus, Lower-limb joint contracture, Right aortic arch, Osteopathia striata, Metatarsus adduc...	ORPHA:513456
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Peripheral pulmonary artery stenosis, Pes planus, Ventricular septal defect, Hematochezia	OMIM:619575
Hallermann-Streiff Syndrome	Congestive heart failure, Microphthalmia, Abdominal situs inversus	ORPHA:2108
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate	OMIM:618891
Mosaic Variegated Aneuploidy Syndrome	Acute lymphoblastic leukemia, Microphthalmia, Aortic regurgitation, Ascites	ORPHA:1052
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Urethrovaginal fistula, Septate vagina, ...	OMIM:243800
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypophosphatemic rickets, Choroidal neovascularization, An...	ORPHA:51608
Frontorhiny	Microphthalmia	ORPHA:391474
Fryns Syndrome	Microphthalmia	ORPHA:2059
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Proteus-Like Syndrome	Genu recurvatum, Lower limb asymmetry, Venous insufficiency	ORPHA:2969
Kabuki Syndrome 1	Joint dislocation, Prominent fingertip pads, Congenital hip dislocation, Micrognathia, Coarctatio...	OMIM:147920
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of the thymus	ORPHA:861
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, Telangiectasia	OMIM:268400
Phace Syndrome	Optic nerve hypoplasia, Retinal vascular malformation, Microphthalmia, Lens coloboma	ORPHA:42775
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abnormal hea...	ORPHA:438213
Mend Syndrome	Aortic valve stenosis, Elevated 8(9)-cholestenol, Microphthalmia, Elevated 8-dehydrocholesterol	ORPHA:401973
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Alzahrani-Kuwahara Syndrome	Patent foramen ovale, Coronary sinus enlargement, Micrognathia, Persistent left superior vena cav...	OMIM:619268
Liver Disease, Severe Congenital	Left atrial enlargement, Pulmonary edema, Patent foramen ovale, Ascites, Systolic heart murmur, M...	OMIM:619991
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia, Retr...	ORPHA:79078
Trichorhinophalangeal Syndrome, Type Ii	Hydrometrocolpos, Bilateral cryptorchidism	OMIM:150230
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Metopic synostosis, Ventricular ...	OMIM:618748
Norrie Disease	Abnormal chorioretinal morphology, Optic atrophy, Microphthalmia, Abnormal vitreous humor morphol...	ORPHA:649
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Thin vermilion border, Short philtrum, Downturned corners of mouth, Bifid uvula, Submucous cleft ...	ORPHA:500150
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos, Attenuation of retinal blood vessels, Optic dis...	ORPHA:468631
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Restrictive Dermopathy 1	Stillbirth, Narrow mouth, Neonatal death, Natal tooth, Submucous cleft hard palate	OMIM:275210
Cushing Syndrome Due To Ectopic Acth Secretion	Purpura, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, H...	ORPHA:99889
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449432
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Neuroocular Syndrome	Widely spaced teeth, Short uvula, Increased overbite, Ankyloglossia, Downturned corners of mouth,...	OMIM:619539
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic disc coloboma	ORPHA:141099
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Submucous cleft hard palate, Bifid uvula, Thick vermilion border, Cleft palate	ORPHA:2636
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Wiedemann-Rautenstrauch Syndrome	Short philtrum, Premature loss of teeth, Narrow mouth, Abnormality of the dentition, Downturned c...	ORPHA:3455
Sotos Syndrome	Increased arm span, Ankle flexion contracture, Atrial septal defect, Talipes equinovarus, Aortic ...	ORPHA:821
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Sandal gap, Ventricular septal defect, Toe clinodactyly, Long fingers, Cutaneous syndactyly	OMIM:620330
Coffin-Siris Syndrome 12	Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, High palate	OMIM:619325
Monosomy 13Q14	Microphthalmia, Retinoblastoma	ORPHA:1587
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Microphthalmia, Elevated circulating creatine kinase concentration, Elevated amni...	OMIM:309000
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Charge Syndrome	Optic atrophy, Microphthalmia, Chorioretinal coloboma, Anophthalmia	ORPHA:138
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Microphthalmia, Pulmonary arterial hypertension, Left ventricular hypert...	OMIM:612289
Mowat-Wilson Syndrome	Aganglionic megacolon, Widely spaced teeth, Delayed eruption of teeth, Tooth malposition, Pyloric...	OMIM:235730
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia, Duplication of internal organs, Retinal coloboma, Ectopic thymus ti...	OMIM:113620
Penile Agenesis	Atrial septal defect, Ventricular septal defect, Oligohydramnios, Bilateral talipes equinovarus	ORPHA:49
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Monosomy 9P	Microphthalmia	ORPHA:261112
Restrictive Dermopathy	Submucous cleft hard palate, Natal tooth, Narrow mouth, Microcolon	ORPHA:1662
Craniofacial Microsomia 1	Genu valgum, Right aortic arch, Vertebral hypoplasia, Partial duplication of thumb phalanx, Micro...	OMIM:164210
Digeorge Syndrome	Right aortic arch with mirror image branching, Intervertebral disk degeneration, Interrupted aort...	OMIM:188400
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia, Aortic regurgitation	OMIM:612474
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Witteveen-Kolk Syndrome	Microphthalmia, Intracranial hemorrhage	OMIM:613406
Microphthalmia, Syndromic 6	Microphthalmia, Retinal dystrophy, Anophthalmia	OMIM:607932
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Townes-Brocks Syndrome	Microphthalmia, Chorioretinal coloboma	ORPHA:857
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 1	Microphthalmia, Chorioretinal coloboma, Optic disc coloboma, Anophthalmia	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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