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Gene: Fsd2 MGI:2444310

Gene Summary

Name:

fibronectin type III and SPRY domain containing 2

Synonyms:

Spryd1, 9830160G03Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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
abnormal lymph node morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal uterus morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal vitreous body morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	5.27×10^-06
shortened RR interval	Fsd2^em1(IMPC)Mbp	HOM	Early adult	2.24×10^-06
enlarged lymph nodes	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Fsd2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged ovary	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
corneal opacity	Fsd2^em1(IMPC)Mbp	HOM	Late adult	8.89×10^-05
abnormal skin morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
absent seminal vesicle	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged seminal vesicle	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased circulating phosphate level	Fsd2^em1(IMPC)Mbp	HOM	Late adult	6.01×10^-05
abnormal ovary morphology	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
increased heart weight	Fsd2^em1(IMPC)Mbp	HOM	Late adult	1.48×10^-14
microphthalmia	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
increased grip strength	Fsd2^em1(IMPC)Mbp	HOM	Middle aged adult	1.20×10^-05
enlarged heart	Fsd2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Fsd2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased heart rate	Fsd2^em1(IMPC)Mbp	HOM	Early adult	3.80×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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Human diseases caused by Fsd2 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 Fsd2 (0 diseases)
Human diseases predicted to be associated with Fsd2 (1608 diseases)

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

The table below shows human diseases predicted to be associated to Fsd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
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
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri...	OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Optic Atrophy 16	Paroxysmal tachycardia	OMIM:620629
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Glycogen Storage Disease Xv	Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ...	OMIM:613507
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity, Microphthalmia	ORPHA:2432
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Variegate Porphyria	Tachycardia	OMIM:176200
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Cardiomyopathy, Familial Hypertrophic, 7	Atrial fibrillation, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hypertro...	OMIM:613690
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Acute Peripheral Arterial Occlusion	Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Abnormality of v...	ORPHA:90064
Brugada Syndrome 2	Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree...	OMIM:611777
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:607487
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Ethanolaminosis	Cardiomegaly	OMIM:227150
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A...	OMIM:612158
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v...	OMIM:604169
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left vent...	OMIM:613424
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Ventricular septal defect, Optic disc pallor, Catar...	OMIM:613730
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries	OMIM:184700
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Corneal opacity, Hypertrophic cardiomyopathy, Developmental cataract, Dilated cardio...	OMIM:618815
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Rabson-Mendenhall Syndrome	Atrial septal defect, Clitoral hypertrophy, Hypokalemia, Long penis, Cardiomyopathy, Precocious p...	ORPHA:769
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Corneal opacity, ...	ORPHA:290
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr...	OMIM:620247
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Corneal opacity, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril...	ORPHA:263297
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy	OMIM:255100
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Abnormality of retinal ...	ORPHA:858
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal salivary gland morphology, Hypotriglyceridemia...	ORPHA:2298
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Cornea...	ORPHA:93476
Opitz Gbbb Syndrome	Atrial septal defect, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Bifid scrotum, Bi...	ORPHA:2745
Brugada Syndrome 5	ST segment elevation, Ventricular fibrillation, Bundle branch block	OMIM:612838
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Development...	ORPHA:335
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Peutz-Jeghers Syndrome	Abnormality of the gallbladder, Anemia, Enlarged polycystic ovaries, Abnormality of the ureter, B...	ORPHA:2869
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uter...	OMIM:615524
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Linear Verrucous Nevus Syndrome	Aplasia/Hypoplasia of the fovea, Hypophosphatemia, Cataract, Abnormal cornea morphology, Iris col...	ORPHA:2611
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Jervell And Lange-Nielsen Syndrome	Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes	ORPHA:90647
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperpho...	OMIM:239200
Hypercalcemia, Infantile, 2	Polyuria, Renal phosphate wasting, Hypercalciuria, Medullary nephrocalcinosis, Nephrocalcinosis, ...	OMIM:616963
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ...	ORPHA:563
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Hypokalemia, Long penis, Hypercalciuria, Hyp...	ORPHA:508
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations	OMIM:188580
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Microphthalmia, Hematuria, Retinal detachment, Corneal opacity, Posterior embryoto...	ORPHA:1473
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Increased circulating iron concentration, Spleno...	OMIM:613313
Leber Hereditary Optic Neuropathy	Ventricular preexcitation, Retinal telangiectasia, Arrhythmia	ORPHA:104
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia, Hypogonadism	ORPHA:2528
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Refractory Celiac Disease	Normocytic anemia, Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Hypoproteinemia, Incr...	ORPHA:398063
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Xp22.3 Microdeletion Syndrome	Aplasia/Hypoplasia affecting the eye, Opacification of the corneal stroma, Polycystic ovaries, Hy...	ORPHA:1643
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Corneal opacity, Splenome...	ORPHA:79292
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Ebstein Anomaly	Atrial fibrillation, Right bundle branch block, Ventricular preexcitation, Sudden cardiac death, ...	OMIM:224700
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Cystinosis, Nephropathic	Recurrent corneal erosions, Generalized aminoaciduria, Corneal crystals, Splenomegaly, Hypophosph...	OMIM:219800
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hyperinsulinism Due To Ucp2 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276556
Cystinosis	Hypokalemia, Nephropathy, Corneal opacity, Portal hypertension, Proteinuria, Hypophosphatemia, Re...	ORPHA:213
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Ascites, Splenomegaly, Nephropathy	ORPHA:87876
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Cardiomyopathy, Leu...	ORPHA:289157
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:604765
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Peters anomaly, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atr...	OMIM:618652
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Cataract, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Familial Isolated Hyperparathyroidism	Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, ...	ORPHA:99879
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Tachycardia	ORPHA:464453
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Testicul...	OMIM:235200
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism	ORPHA:393
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Hematuria, Nephrotic syndrome, Proteinuria, Membranopro...	OMIM:608709
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276575
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Unilateral renal agenesis, Testicular seminoma, Corneal opacity, Hypogonadism, Cr...	ORPHA:281090
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Corneal opacity, Persistent pupillary membrane, Abnormal heart morphology, Cataract, Aplasia/Hypo...	ORPHA:1067
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Renal phosphate wasting, Hepatosplenomegaly, Hypophosphatemia, Abnormal...	OMIM:307800
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
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Abnormal peritoneum morphology, Splenic cyst, ...	ORPHA:400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Syncope, Palpitations, Hypertrophic cardiomyopathy, Tachycardia	ORPHA:276580
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Cataract 21, Multiple Types	Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ...	OMIM:610202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Retinal detachment, Corneal opacity, Elevated circulating creatine kinase concent...	OMIM:613153
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, 3-Methylglutaconic aciduria, Optic nerve hypoplasia, Corneal opacity, Hypertrophic...	ORPHA:496790
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Conjugated hyper...	OMIM:269920
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia	ORPHA:276608
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Increased circulating iron concentration, S...	OMIM:602390
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Kerion Celsi	Lymphadenopathy	ORPHA:499
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Enlarged polycystic ovaries, Ovarian cyst, Increased circulati...	ORPHA:64739
Mucolipidosis Type Iii	Abnormal heart valve morphology, Abnormal aortic valve morphology, Corneal opacity	ORPHA:577
Rudiger Syndrome	Ureterovesical stenosis, Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Congenital Myopathy 5 With Cardiomyopathy	Congestive heart failure, Arrhythmia, Severely reduced left ventricular ejection fraction, Atriov...	OMIM:611705
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Hereditary Bullous Dystrophy, Macular Type	External genital hypoplasia, Corneal opacity, Decreased testicular size, Abnormal heart morpholog...	ORPHA:1867
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hepatomegaly, Generalized aminoaciduria, Renal tubular acidosis, Hypercalci...	ORPHA:2088
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P...	OMIM:601214
Cofs Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Hypogonadism, Cataract	ORPHA:1466
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity, Abnormal cardiac septum morphology	ORPHA:2370
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchi...	ORPHA:363741
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Hyperinsulinism Due To Hnf1A Deficiency	Syncope, Palpitations, Tachycardia	ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Cataract, ...	OMIM:256550
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Warburg Micro Syndrome 1	Optic atrophy, Microphthalmia, External genital hypoplasia, Microcornea, Developmental cataract, ...	OMIM:600118
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hypoparathyroidism, Hypocalcemia, Nephrocalcinosis, Cataract, Hyperphospha...	OMIM:146200
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Hypouricemia, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria, Hypopho...	OMIM:616026
Galactosialidosis	Corneal opacity	ORPHA:351
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Polycystic ovaries, Dilated cardiomyopathy, Hypergonadotropic hypogonadism	ORPHA:2229
Aromatase Deficiency	Macroorchidism, postpubertal, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypo...	ORPHA:91
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom...	OMIM:300257
Nanophthalmos 2	Microphthalmia	OMIM:609549
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Microphthalmia	ORPHA:3469
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Dicarboxylic aciduria, Increased circulating free fatty acid level, Hypophosphatemi...	OMIM:605911
Sanjad-Sakati Syndrome	Astigmatism, Hypoparathyroidism, Congenital hypoparathyroidism, Hypoplasia of penis, Hypocalcemia...	ORPHA:2323
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhage, Tachycardi...	ORPHA:449285
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular septal d...	ORPHA:3378
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia,...	OMIM:214110
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Microphthalmia, Microcornea, Cataract, Macular atrophy, Optic disc pallor	OMIM:616171
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Anemia, Transient hypophosphatemia, Hypoparathyroidism, Retinal calcification, Hy...	OMIM:127000
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Zellweger Syndrome	Optic atrophy, Clitoral hypertrophy, Jaundice, Hepatomegaly, Hypospadias, Ventricular septal defe...	ORPHA:912
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Astigmatism, Hypospadias, Optic nerve hypoplasia, Vesicoureteral reflux, Ventricula...	OMIM:301056
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Polycystic ovaries, Hepatomegaly, Pancreatitis	ORPHA:79084
Atrial Septal Defect, Ostium Secundum Type	Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary...	ORPHA:99103
Fanconi-Bickel Syndrome	Intrahepatic cholestasis, Hepatomegaly, Increased serum bile acid concentration, Generalized amin...	OMIM:227810
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Parathormone-independent increased renal tubular ca...	OMIM:600740
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Erythrokeratodermia Variabilis	Cataract, Corneal opacity, Abnormal testis morphology	ORPHA:317
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, Organic a...	OMIM:619743
Cataract 9, Multiple Types	Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma	OMIM:604219
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,...	OMIM:613885
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia	OMIM:141000
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Retinal coloboma, Hypogonadism, Cataract, Cryptorchidism	OMIM:601794
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri...	OMIM:212138
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased testicular size, Abnormality of retinal pigmentation, C...	ORPHA:3085
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Winchester Syndrome	Corneal opacity	OMIM:277950
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Anopht...	ORPHA:899
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial...	ORPHA:85450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Unilateral renal agenesis, Hypospadias, Abnormal o...	ORPHA:95699
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciuria, Calcium nephrolithiasis, Hypop...	OMIM:241530
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hyperc...	ORPHA:157215
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephrolithiasis, Renal cyst, ...	ORPHA:99880
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Microphthalmia, Con...	OMIM:241410
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia	OMIM:613239
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Foveal Hypoplasia 2	Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea	OMIM:609218
Colchicine Poisoning	Myocarditis, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatre...	ORPHA:31824
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
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
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation	ORPHA:1574
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten...	OMIM:613426
Parathyroid Carcinoma	Parathyroid carcinoma, Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Nephro...	ORPHA:143
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Hypertension	OMIM:613870
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Mucolipidosis Iv	Optic atrophy, Abnormal abdomen morphology, Corneal opacity, Opacification of the corneal stroma,...	OMIM:252650
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Secondary hyper...	OMIM:264700
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Cataract, Hypoalbuminemia, Dilated cardiomyopathy, He...	OMIM:618805
Pierpont Syndrome	Microcornea, Cryptorchidism, Micropenis, Microphthalmia	OMIM:602342
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent...	OMIM:601005
Cataract 11, Multiple Types	Cataract, Microphthalmia, Developmental cataract	OMIM:610623
Gonadoblastoma	Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g...	ORPHA:206484
Alpha-Mannosidosis	Cataract, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:61
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Rere-Related Neurodevelopmental Syndrome	Optic atrophy, Microphthalmia, Astigmatism, Hypospadias, Peters anomaly, Vesicoureteral reflux, V...	ORPHA:494344
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Mulibrey Nanism	Hepatomegaly, Astigmatism, Corneal dystrophy, Ascites, Pericardial constriction, Myocardial fibro...	OMIM:253250
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Corneal crystals, Hypophosphatemia, Elevated circulating creatinine concent...	ORPHA:411634
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration, Microphthalmia	OMIM:251700
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Bicuspid aortic valve, Hors...	OMIM:619318
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Isosexual precocious puberty, Microphthalmia, Corneal opacity	ORPHA:2788
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph...	OMIM:134600
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Sclero...	ORPHA:77298
Anterior Segment Dysgenesis 8	Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ...	OMIM:617319
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki...	OMIM:601186
Pierpont Syndrome	Microcornea, Cryptorchidism, Microphthalmia	ORPHA:487825
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia, Renal phosphate wasting	OMIM:193100
Combined Oxidative Phosphorylation Deficiency 54	Tachycardia	OMIM:619737
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Hypocalcemia, Pancreati...	ORPHA:1655
Juvenile Sialidosis Type 2	Optic atrophy, Hepatomegaly, Visceromegaly, Corneal opacity, Abnormal heart morphology, Hepatospl...	ORPHA:93399
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Proteus-Like Syndrome	Retinal detachment, Heterochromia iridis, Cataract, Abnormal pupil morphology, Splenomegaly, Abno...	ORPHA:2969
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Hereditary Pulmonary Alveolar Proteinosis	Tachycardia	ORPHA:264675
Microphthalmia, Isolated 5	Microphthalmia, Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epith...	OMIM:611040
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Hereditary Fructose Intolerance	Hypermagnesemia, Hepatomegaly, Jaundice, Hyperuricemia, Hypophosphatemia, Chronic kidney disease,...	ORPHA:469
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia, Nephrolithiasis, Hyperparathyroidism	ORPHA:93160
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Tetragametic Chimerism	Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov...	ORPHA:199310
Congenital Sialidosis Type 2	Optic atrophy, Hepatomegaly, Corneal opacity, Ascites, Abnormal heart morphology, Hepatosplenomeg...	ORPHA:93400
Biemond Syndrome Type 2	Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hypercalciuria, Hyperphosphaturia, Nephrocalcinosis, Hypercalcemia, Hypophosp...	OMIM:156400
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopath...	ORPHA:100083
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:615297
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Oculocerebrorenal Syndrome Of Lowe	Microphthalmia, Corneal opacity, Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Hyperp...	ORPHA:534
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Autoimmune hypoparathyroidism, Calcium nephrolithiasis, Hypo...	ORPHA:36913
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Cataract, Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Microphthalmia, Syndromic 8	Microcornea, Cryptorchidism, Microphthalmia	OMIM:601349
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Anterior polar cataract, Nephrotic syndrome, Microscopic hematuria, Nephroca...	OMIM:104200
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Iron deficiency anemia	ORPHA:89937
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Optic d...	OMIM:619170
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormal testis morphology, Lymphopenia	ORPHA:100
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hypercalciuria, Nephrolithiasis, Hyperphosphaturia, Hypophosphatemia	OMIM:612286
Nanophthalmos	Microphthalmia, Abnormality of retinal pigmentation	ORPHA:35612
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,...	ORPHA:542323
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting	OMIM:612287
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Renal phosphate wasting, Parathyroid hyperplasia, Hypercalcemia, Hypoph...	OMIM:612089
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Optic nerve compression, Hypocalcemia, Splenomegaly, Hypop...	ORPHA:667
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Conjunctivitis, Follicular hy...	OMIM:240500
Myotonic Dystrophy 2	Tachycardia, Palpitations, Right bundle branch block, Premature ventricular contraction	OMIM:602668
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Multiple Sulfatase Deficiency	Optic atrophy, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Abnormality of retinal pigme...	ORPHA:585
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Iris hyp...	ORPHA:79477
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Astigmatism, Microphthalmia, Optic nerve h...	OMIM:609053
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Meckel Syndrome	Microphthalmia, Ureteral duplication, Pancreatic fibrosis, Optic atrophy, Accessory spleen, Asple...	ORPHA:564
Pseudohypoparathyroidism, Type Ic	Low urinary cyclic AMP response to PTH administration, Hypocalcemia, Pseudohypoparathyroidism, Hy...	OMIM:612462
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Decreased testicular size, Renal h...	ORPHA:85284
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Plin1-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis, Polycystic ovaries	ORPHA:280356
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Abnormality of blood circulation, Left ventricula...	ORPHA:860
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Hypocalcemia, Pseudohypoparathyroidism, Hypocalcemic tetany, Hyperphosphat...	ORPHA:94090
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci...	OMIM:618886
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Ventricular septal defect, Hypoplasia of the iris, Hydronephrosis,...	OMIM:613001
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ...	OMIM:152950
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Corneal opacity, Urinary excretion of sialylated oligos...	ORPHA:812
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Hypokalemia, Glycosuria, Hyperphosphaturia, Renal Fanconi syndr...	ORPHA:411629
Muscular Dystrophy, Congenital, Lmna-Related	Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia	OMIM:613205
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su...	ORPHA:137675
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Patent foramen ovale, Ventricular septal defect, Renal...	OMIM:618494
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Ventricular fibrillation, Atrioventricular block, Arrhythmia, Tachycardia,...	ORPHA:26793
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac...	OMIM:267760
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, Poly...	ORPHA:2348
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Congenital hypoparathyroidism, Hypercalciuria, Hypocalcemia, Hypomagnesemi...	ORPHA:2239
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia	ORPHA:90036
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Ascites, Abnormality of the ovary, Peritonitis, Gonadal calcifi...	ORPHA:314473
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C...	OMIM:269400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
High Altitude Pulmonary Edema	Tachycardia	ORPHA:330012
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy...	OMIM:618280
Stickler Syndrome Type 2	Retinal detachment, Corneal opacity, Cataract	ORPHA:90654
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Hyperuricemia, Hypertrophic cardiomy...	ORPHA:79083
Pseudohypoparathyroidism Type 1B	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Low urinary cyclic ...	ORPHA:94089
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopat...	OMIM:602782
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Hepatocellular carcinoma, Cardiomyopath...	ORPHA:465508
Harel-Yoon Syndrome	Optic atrophy, Developmental cataract, Corneal opacity, Hypertrophic cardiomyopathy	OMIM:617183
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal...	ORPHA:91495
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Pseudohyp...	OMIM:603233
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia, Microcoria, Iris coloboma	OMIM:616428
Juvenile Neuronal Ceroid Lipofuscinosis	Tachycardia	ORPHA:79264
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Optic disc pallor	ORPHA:309288
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia	ORPHA:88643
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Hypoplasia of penis, Retinal coloboma, Tetralogy of Fallot, Ventri...	ORPHA:2328
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Cataract, Cryptorchidism, Iris coloboma	ORPHA:139471
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia, Exudative retinal detachment	ORPHA:209956
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Fibrous Dysplasia Of Bone	Precocious puberty in females, Testicular neoplasm, Hyperpituitarism, Hypercalcemia, Hypophosphat...	ORPHA:249
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Buphthalmos, Long penis, Testicular neoplasm, Retinal nonattac...	ORPHA:744
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c...	OMIM:217300
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Cowden Syndrome	Adenoma sebaceum, Abnormal penis morphology, Conjunctival hamartoma, Enlarged polycystic ovaries,...	ORPHA:201
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism	ORPHA:397685
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopen...	ORPHA:79312
Ichthyosis, X-Linked	Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism	OMIM:308100
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Microvesicula...	OMIM:212140
Hypocalcemia, Autosomal Dominant 1	Decreased glomerular filtration rate, Hypokalemia, Hypercalciuria, Hypocalcemia, Nephrolithiasis,...	OMIM:601198
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Hypoplasia of the uterus, Microphthalmia, Hypospadias, Ovotestis, Peters an...	OMIM:309801
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Microphthalmia, Hematuria, Iris coloboma	OMIM:120433
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Kapur-Toriello Syndrome	Microphthalmia, Iris coloboma, Ventricular septal defect, Retinal coloboma, Cataract, Atrial sept...	OMIM:244300
Lowry-Maclean Syndrome	Developmental glaucoma, Atrioventricular canal defect, Hypospadias, Corneal opacity, Abnormality ...	ORPHA:2409
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Sickle Cell Disease	Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells...	OMIM:603903
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Cataract, Hyperammonemia, Secundum atrial septal defec...	OMIM:620609
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Refsum Disease	Microphthalmia, Cardiomyopathy, Abnormality of retinal pigmentation, Splenomegaly, Cataract, Rena...	ORPHA:773
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract, Cryptorchidism, Micr...	OMIM:610125
Morquio Syndrome C	Corneal opacity	OMIM:252300
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy, Conjunctivitis	OMIM:617772
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, R...	ORPHA:264580
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Pseudohypoparathyroidism, Type Ia	Low urinary cyclic AMP response to PTH administration, Pseudohypoparathyroidism, Hypogonadism, Hy...	OMIM:103580
Dent Disease	Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis...	ORPHA:1652
Warburg Micro Syndrome 4	Optic atrophy, Microphthalmia, Microcornea, Decreased testicular size, Developmental cataract, Sm...	OMIM:615663
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Tachycardia, Hypertrophic cardiomyopathy	ORPHA:368
2Q24 Microdeletion Syndrome	Abnormality iris morphology, Microphthalmia, Cataract	ORPHA:1617
Warburg Micro Syndrome 3	Optic atrophy, Microphthalmia, Microcornea, Hypoplastic labia minora, Cataract, Decreased testicu...	OMIM:614222
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ...	ORPHA:75565
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism	OMIM:203330
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Corneal opacity, Bicornuate uterus, Hydroneph...	ORPHA:2059
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Microphthalmia, Cardiomyopathy, Elevated circulating creatine kinase conc...	OMIM:613155
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Tularemia	Tachycardia	ORPHA:3392
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Clitoral hypertrophy, Precoc...	ORPHA:528
Microphthalmia/Coloboma 3	Cataract, Microphthalmia, Iris coloboma	OMIM:610092
Hurler Syndrome	Hepatomegaly, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tons...	OMIM:607014
Micro Syndrome	Optic atrophy, Microphthalmia, Hypoplasia of penis, Microcornea, Hypoplastic labia minora, Retina...	ORPHA:2510
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Refsum Disease, Classic	Cardiomyopathy, Cataract, Elevated circulating phytanic acid concentration, Abnormal renal physio...	OMIM:266500
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Retinal c...	ORPHA:93325
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pap...	OMIM:607115
Nanophthalmos 4	Optic disc drusen, Microphthalmia	OMIM:615972
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Hyperalaninemia, Ascites, Hypertrophic cardiomyopathy, Hyperammonemia, Pericardial...	OMIM:614702
Stiff-Person Syndrome	Tachycardia, Hypertension	OMIM:184850
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly	OMIM:230650
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Warburg Micro Syndrome 2	Optic atrophy, Microphthalmia, Microcornea, Cataract, Developmental cataract, Small scrotum, Cryp...	OMIM:614225
Gm1 Gangliosidosis	Optic atrophy, Cardiomyopathy, Corneal opacity, Abnormal scrotum morphology, Hepatosplenomegaly, ...	ORPHA:354
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor	OMIM:251270
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Pelvic kidney, Ves...	OMIM:603467
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Nephropathy	OMIM:105200
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Hyp...	OMIM:617914
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Anterior Segment Dysgenesis 5	Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel...	OMIM:604229
Preeclampsia	Acute kidney injury, Abnormality of the hepatic vasculature, Thrombocytopenia, Proteinuria, Chron...	ORPHA:275555
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Paroxysmal atrial tachycardia, Cardiac arrest	ORPHA:49827
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Microcornea, Septo-optic dysplasia, Vaginal atresia, Cataract, Cry...	ORPHA:3301
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Microphthalmia, Developmental cataract, Retinal dysplasia	ORPHA:324416
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma	OMIM:611638
Ovarian Fibrothecoma	Ovarian fibroma, Ascites, Abnormality of the ovary, Abnormal endometrium morphology, Peritonitis,...	ORPHA:314478
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Cataract, Developmental cataract, Small scrotum, Micropenis	OMIM:610756
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Retinal degeneration	OMIM:272200
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect, Optic disc pa...	OMIM:300887
Distal Deletion 10P	Polycystic ovaries, Cryptorchidism, Hypoplasia of penis	ORPHA:1580
Tangier Disease	Hypertriglyceridemia, Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Coronary ar...	ORPHA:31150
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Catara...	ORPHA:284160
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Iris coloboma	OMIM:610023
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Hereditary Coproporphyria	Tachycardia	ORPHA:79273
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Hyperalaninemia, Hyperprolinemia	OMIM:619064
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microphthalmia, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membran...	OMIM:221900
Mayer-Rokitansky-Küster-Hauser Syndrome	Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, P...	ORPHA:3109
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow hypocellu...	ORPHA:549
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophic c...	OMIM:618052
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Testicular microlithiasis, Abnormal spermatogenesis, Abnormality of the Leydig cells...	OMIM:228300
46,Xy Complete Gonadal Dysgenesis	Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis	ORPHA:242
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Retinal ...	ORPHA:2556
Norrie Disease	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit...	OMIM:310600
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Corneal opacity, Remnants of the hyaloid vascular system, ...	OMIM:120200
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Autosomal Dominant Keratitis	Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr...	ORPHA:2334
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Renal tubular acid...	ORPHA:79240
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve, Cryptorchidism, Micropenis, Iris co...	OMIM:243310
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Elevated circulating creatine k...	OMIM:300280
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Mucopolysaccharidosis Type 1	Optic atrophy, Abnormal aortic valve morphology, Abnormality of the tonsils, Abnormal heart valve...	ORPHA:579
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma	OMIM:300915
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Aniridia, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of th...	OMIM:194072
Hypodontia-Dysplasia Of Nails Syndrome	Polycystic ovaries	ORPHA:2228
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e...	OMIM:610256
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	OMIM:229700
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Carpenter Syndrome 1	Optic atrophy, External genital hypoplasia, Hydroureter, Transposition of the great arteries, Mic...	OMIM:201000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Peters anomaly, Retinal detachment, Optic nerve...	OMIM:236670
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate...	OMIM:607015
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki...	ORPHA:2237
16P12.1P12.3 Triplication Syndrome	Tachycardia	ORPHA:485405
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria, Cataract	ORPHA:3137
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Hypocalcemia, Mucopolysacchariduria, Hypercalcemia, Splenomegaly, D...	OMIM:618440
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Oncogenic Osteomalacia	Hypocalcemia, Hyperphosphaturia, Hypophosphatemia, Renal phosphate wasting	ORPHA:352540
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Microphthalmia/Coloboma 7	Microphthalmia, Iris coloboma	OMIM:614497
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Polycystic ovaries, Subcapsular cataract, Pigmentary retinopathy, Hypergonadotropic hypogonadism	OMIM:268020
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis, Iris coloboma	ORPHA:195
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Kayser-Fleischer ring, Hepatitis, Thr...	ORPHA:905
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Microcornea, Hydronephrosis, Sclerocorn...	OMIM:243605
Axenfeld-Rieger Syndrome, Type 2	Hypospadias, Microcornea, Abnormal heart morphology, Opacification of the corneal stroma, Cryptor...	OMIM:601499
Farber Disease	Anemia, Lymphadenopathy, Macular degeneration, Intrahepatic cholestasis with episodic jaundice, C...	ORPHA:333
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma, Cryptorchidism	ORPHA:461
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Myocarditis, Increased circulating ferritin concentrati...	ORPHA:829
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e...	ORPHA:36412
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Astigmatism, Hepatic fibrosis, Abnormality of the ovary,...	OMIM:209900
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Renal cortical microcysts, Splenomegaly, Optic nerve dysplasia...	OMIM:614866
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperamm...	ORPHA:42
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:600901
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Decreas...	OMIM:201475
Wagro Syndrome	Hypoplastic female external genitalia, Aniridia, Corneal opacity, Decreased testicular size, Prot...	OMIM:612469
Blue Diaper Syndrome	Blue urine, Nephrocalcinosis, Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia...	OMIM:612783
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Corneal opacity, Ureteral stenosis, Aplasia/Hypoplasia affecting the eye, Iris hypopigmen...	ORPHA:2719
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morph...	ORPHA:370959
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Prolonged QT in...	ORPHA:57777
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Ventricular septal defect, Bicornuate uterus, Re...	OMIM:264480
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Hyperuricemia, Transient aminoaciduria, Hyperb...	OMIM:229600
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hypercholesterolemia	ORPHA:75234
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Rhabdoid Tumor	Hematuria, Lymphadenopathy, Anemia, Thrombocytopenia, Hypercalcemia, Neoplasm of the liver	ORPHA:69077
Mogs-Cdg	Optic atrophy, Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Thrombocytopenia, L...	ORPHA:79330
Akt2-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Polycystic ovaries, Hepatomegaly, Hepatic steatosis	ORPHA:79085
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis	ORPHA:2547
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Dysuria, Abnormality of the ovary, Polycystic ovaries, Urinary retention, A...	ORPHA:2795
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Developmental glaucoma, Bifid scrotum, Bicuspid aortic valve, Hypospad...	ORPHA:1772
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Iris hypopigmentation, Catara...	ORPHA:85194
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Elevated circulating creatine kinase ...	OMIM:615181
Lissencephaly 8	Optic atrophy, Microphthalmia, Elevated circulating creatine kinase concentration, Cataract	OMIM:617255
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Polycystic ovaries, Ventricular septal defect, Abnormality of the ureter	ORPHA:1770
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias, Microcornea, Hydronephrosis, Cataract, Atrial ...	OMIM:616449
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, Ventricular fibrillation, Ve...	OMIM:616878
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Microcornea, Spherocytosis, Splenomegaly, Hypogonadism, Mitral ...	ORPHA:251066
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Ascites, Ventricular se...	OMIM:235255
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Lipodystrophy, Congenital Generalized, Type 4	Atrial fibrillation, Tachycardia, Prolonged QT interval, Bradycardia	OMIM:613327
Mucopolysaccharidosis Type 7	Corneal opacity, Ascites, Mucopolysacchariduria, Splenomegaly, Hepatitis	ORPHA:584
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Fish-Eye Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr...	OMIM:136120
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria	OMIM:166300
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Lipe-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Elevated circulating creati...	ORPHA:435660
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly	OMIM:619051
Congenital Primary Aphakia	Microphthalmia, Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting...	ORPHA:83461
Cidec-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis	ORPHA:435651
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Developmental cataract, Lymphopeni...	OMIM:616395
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect, Leukemia	OMIM:602501
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cholelithiasis, Hypoparathyro...	ORPHA:231222
Mucopolysaccharidosis Type 3	Optic atrophy, Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Corneal opa...	ORPHA:581
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:227650
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Acrodysostosis 1 With Or Without Hormone Resistance	Optic atrophy, Unilateral renal agenesis, Decreased growth hormone responses to growth hormone-re...	OMIM:101800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrial septal defect, Pterygium, Premature thelarche, Papilledema, Nodular goiter, Mitral valve p...	ORPHA:371428
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, R...	OMIM:115197
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid...	ORPHA:3337
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asc...	ORPHA:457077
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Atrial septal defect, C...	ORPHA:2728
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo...	ORPHA:94059
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept...	OMIM:616897
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Patent foramen ovale, Thrombocytopenia, Splenomegaly, Cataract, Opacifica...	OMIM:251290
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Long-chain...	OMIM:608836
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
H Syndrome	Hypertriglyceridemia, Corneal arcus, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased tes...	ORPHA:168569
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Retinal degeneration, A...	ORPHA:391428
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Astigmatism, Cardiomyopathy, Elevated circulating creatine kinase concentration, Ne...	OMIM:617713
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Elevated circulating C...	ORPHA:160
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Papillorenal Syndrome	Microphthalmia, Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Retin...	OMIM:120330
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea...	OMIM:615630
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Conjunctival whitish salt-like deposi...	OMIM:211900
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Ventricular septal defec...	OMIM:227645
Donohue Syndrome	Clitoral hypertrophy, Long penis, Cholestasis, Precocious puberty, Ovarian cyst, Hepatic fibrosis...	OMIM:246200
Hurler Syndrome	Hepatomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomyopathy, Cornea...	ORPHA:93473
Lipodystrophy, Familial Partial, Type 3	Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperuricemia, Polycyst...	OMIM:604367
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia, Retinal dysplasia	OMIM:615665
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia, Retinal dysplasia	OMIM:615771
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Marden-Walker Syndrome	Microphthalmia, Dextrocardia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:168558
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia	ORPHA:263455
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Microcornea, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Retinal dysplasia	OMIM:614830
Microphthalmia, Lenz Type	Microphthalmia, Hydroureter, Hypospadias, Microcornea, Hydronephrosis, Optic disc coloboma, Catar...	ORPHA:568
Cerebrooculofacioskeletal Syndrome 1	Cataract, Microphthalmia, Cryptorchidism	OMIM:214150
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ocular anterior segment dysgenesis, Bilateral microphthalmos, Patent foramen ovale, Cryptorchidis...	ORPHA:369891
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Hypospadias, Unilateral renal agenesis, Retinal detachment, Pelvic kidney, Ventricul...	ORPHA:464311
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Anemia, Accessory spleen, Patent foramen ovale, Portal hype...	OMIM:620005
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp...	ORPHA:289548
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Malignant Hyperthermia Of Anesthesia	Ventricular tachycardia, Supraventricular tachycardia, Premature ventricular contraction, High-ou...	ORPHA:423
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Ascites, Portal ...	ORPHA:98850
Double Outlet Right Ventricle	Pulmonic stenosis, Tachycardia, Heart murmur	ORPHA:3426
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Corneal opacity, Precocious puberty, Hyperphosphaturia, Horseshoe kidney	OMIM:163200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Microphthalmia, Astigmatism	OMIM:619694
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Jacobsen Syndrome	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Microcornea, Ven...	OMIM:147791
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Acute pa...	ORPHA:79086
Congenital Disorder Of Glycosylation, Type It	Pulmonary arterial hypertension, Tachycardia, Aborted sudden cardiac death, Dilated cardiomyopath...	OMIM:614921
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypoc...	ORPHA:99845
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Isosexual precocious puberty, Hypok...	ORPHA:90795
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Iris ...	ORPHA:231736
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Ventricular septal hypertrop...	OMIM:269700
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Abnormal heart valve morphology, Cardiomyopathy, Corneal opacity, Dermatan sulfate ...	OMIM:253220
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Corneal opacity, Bicor...	OMIM:219000
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Ornithine Transcarbamylase Deficiency	Hyperammonemia, Splenomegaly, Aminoaciduria	ORPHA:664
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Microphthalmia/Coloboma 9	Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco...	OMIM:615145
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Corneal opacity, Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Catarac...	ORPHA:1052
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Macular degeneration, Astigmatism, Retinal pigment epith...	OMIM:270200
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Microphthalmia, Membranous subvalvular aortic stenosis,...	ORPHA:3191
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic...	ORPHA:228308
Carney Triad	Tachycardia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia	ORPHA:139411
Bartsocas-Papas Syndrome	Ambiguous genitalia, Hypoplastic male external genitalia, Popliteal pterygium, Corneal opacity	ORPHA:1234
Opsismodysplasia	Hypophosphatemia, Renal phosphate wasting	OMIM:258480
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Microphthalmia, Beta-alaninuria, E...	OMIM:614105
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Elevated c...	OMIM:255120
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephroli...	OMIM:608594
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Enlarged kidney, Ovarian serous cystadenoma, Hydrocele testis	ORPHA:276280
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Oculofaciocardiodental Syndrome	Microphthalmia, Iris coloboma, Retinal detachment, Microcornea, Ectopia lentis, Mitral valve prol...	ORPHA:2712
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Microphthalmia, Cryptorchidism, Abnormal heart morphology	ORPHA:404440
Raine Syndrome	Hydronephrosis, Hydroureter, Hypophosphatemia	OMIM:259775
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Attrv122I Amyloidosis	Anemia, Increased circulating NT-proBNP concentration, Cardiac amyloidosis, Restrictive cardiomyo...	ORPHA:85451
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement	OMIM:614473
Pseudohypoparathyroidism Type 1C	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Decreas...	ORPHA:79444
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Decreased HDL cholester...	ORPHA:77259
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Chronic kidney disease, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uter...	OMIM:146255
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypomagnesiuria, Hypocalciuria, Reduced rat...	ORPHA:405
Calciphylaxis	Secondary hyperparathyroidism, Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, H...	OMIM:278000
Fabry Disease	Optic atrophy, Abnormal circulating lipid concentration, Abnormal endocardium morphology, Abnorma...	ORPHA:324
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr...	OMIM:215250
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Microcornea, Precocious puberty, Sclerocornea, Ectopia...	OMIM:615877
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation, Atrial septal defect, Ventricular septal defect	OMIM:611134
Gaucher Disease	Decreased HDL cholesterol concentration, Corneal opacity, Leukopenia, Splenomegaly, Pancytopenia,...	ORPHA:355
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Tricuspid regurgitation, Ventricular...	OMIM:620519
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Keratoconjunctivitis sicca,...	ORPHA:90324
3Mc Syndrome 3	Penoscrotal hypospadias, Bifid scrotum, Corneal opacity, Cryptorchidism, Micropenis, Horseshoe ki...	OMIM:248340
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocy...	OMIM:227646
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Anemia, Atrioventricular canal defect, Vesicoureteral reflux, Aplasia of th...	OMIM:274000
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Astigmatism, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior p...	ORPHA:464306
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Sclerocornea, Cataract, Cryptorchidism, Micropenis, Pigmentary retinopathy	OMIM:614230
Frontonasal Dysplasia 1	Cataract, Microphthalmia, Tetralogy of Fallot	OMIM:136760
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Microphthalmia, Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iri...	OMIM:212550
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Pagod Syndrome	Optic atrophy, Situs inversus totalis, Abnormal testis morphology, Female pseudohermaphroditism, ...	ORPHA:991
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy, Aniridia	ORPHA:654
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Congestive heart failure	OMIM:605676
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Wilson Disease	Sunflower cataract, Portal fibrosis, Ascites, Splenomegaly, High nonceruloplasmin-bound serum cop...	OMIM:277900
Porphyria Variegata	Tachycardia, Hypertension	ORPHA:79473
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Lymphangioleiomyomatosis	Optic atrophy, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system,...	ORPHA:538
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Papilledema, Polycyt...	ORPHA:2905
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy, Developmental cataract, Cataract, Cryptorchidism, Micropenis, Hyp...	OMIM:212720
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Ventricular sep...	OMIM:214100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus	OMIM:601076
Oculocerebrocutaneous Syndrome	Cryptorchidism, Corneal opacity, Iris coloboma	ORPHA:1647
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Abnormal heart valve morphology, Opacification of the corneal stroma, Sple...	ORPHA:583
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Renal hypoplasia, Lens coloboma	OMIM:618914
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly	OMIM:256540
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Truncus arter...	ORPHA:2538
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Cryoglobulinemic Vasculitis	Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Hyperthyroidism, Nonautoimmune	Tachycardia	OMIM:609152
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Ocular albinism, Iris hypopigm...	OMIM:214500
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Keratoconjunctivitis sic...	ORPHA:809
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Short Syndrome	Astigmatism, Megalocornea, Rieger anomaly, Ovarian cyst, Cataract	OMIM:269880
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Mucopolysaccharidosis Type 2, Severe Form	Optic atrophy, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morphology, Abnormal...	ORPHA:217085
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Pseudohypoparathyroidism Type 1A	Calcinosis, Low urinary cyclic AMP response to PTH administration, Hypocalcemic seizures, Decreas...	ORPHA:79443
Nance-Horan Syndrome	Retinal detachment, Microcornea, Microphthalmia, Cataract	ORPHA:627
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy	OMIM:618321
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Trisomy 18	Microphthalmia, Microcornea, Cryptorchidism, Abnormality of retinal pigmentation, Hydronephrosis,...	ORPHA:3380
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Hypert...	ORPHA:280365
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Cockayne Syndrome	Microphthalmia, Urinary incontinence, Retinal atrophy, Splenomegaly, Optic atrophy, Band keratopa...	ORPHA:191
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
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
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
22Q11.2 Deletion Syndrome	Corneal neovascularization, Microphthalmia, Multiple renal cysts, Splenomegaly, Optic atrophy, Tr...	ORPHA:567
Mucopolysaccharidosis Type 2, Attenuated Form	Optic atrophy, Abnormal tricuspid valve morphology, Abnormal pulmonary valve morphology, Abnormal...	ORPHA:217093
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Iris coloboma, Accessory ...	OMIM:249000
Cowden Syndrome 1	Varicocele, Ovarian cyst, Lymphopenia, Cataract, Goiter, Ovarian carcinoma, Hydrocele testis	OMIM:158350
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
1Q21.1 Microdeletion Syndrome	Microphthalmia, Iris coloboma, Vesicoureteral reflux, Hydronephrosis, Cataract, Cryptorchidism, A...	ORPHA:250989
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Tetralogy of Fallot, Thrombocytopenia, Horseshoe kidney, Abnormal cardiac ...	ORPHA:3320
Mucopolysaccharidosis Type 2	Optic atrophy, Hepatomegaly, Abnormal tricuspid valve morphology, Abnormal heart valve morphology...	ORPHA:580
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Retinal hemorrhage, Thrombocytopenia, Splenomegaly...	ORPHA:294
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Optic atrophy, Atrial septal defect, Microphthalmia, Transposition of the great arteries, Retinal...	OMIM:253800
Vitreoretinochoroidopathy	Microphthalmia, Retinal detachment, Microcornea, Developmental cataract, Retinal neovascularizati...	OMIM:193220
Digeorge Syndrome	Sclerocornea, Anemia, Unilateral renal agenesis, Cholelithiasis, Hypocalcemia, Truncus arteriosus...	OMIM:188400
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration	OMIM:618838
Okamoto Syndrome	Urinary incontinence, Astigmatism, Abnormal left ventricle morphology, Abnormally large globe, Pr...	ORPHA:2729
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Hyperuricemia, Hypocalcemia, Myoglobinur...	ORPHA:94093
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Renal Nutcracker Syndrome	Syncope, Orthostatic hypotension, Tachycardia	ORPHA:71273
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Mucolipidosis Type Iii Alpha/Beta	Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity, Right ventricular hypert...	ORPHA:423461
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr...	ORPHA:980
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia	ORPHA:348
Chops Syndrome	Optic atrophy, Patent foramen ovale, Vesicoureteral reflux, Ventricular septal defect, Anomalous ...	OMIM:616368
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Retinal detachment, M...	OMIM:612109
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Aortic valve stenosis, Chondro...	OMIM:253010
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperuricemia, Hypercalciuria, Increased urine deoxypyridinoline level, Retina...	OMIM:239000
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Hypoplastic labi...	ORPHA:495875
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Scheie Syndrome	Aortic valve stenosis, Retinal degeneration, Mitral stenosis, Corneal opacity	OMIM:607016
Microphthalmia, Syndromic 16	Microphthalmia, Sclerocornea, Anophthalmia	OMIM:611038
Thyrotoxic Periodic Paralysis	Hyperkalemia, Transient hypophosphatemia, Decreased urinary potassium, Episodic hypokalemia, Hypo...	ORPHA:79102
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Fixed Subaortic Stenosis	Bicuspid aortic valve, Atrioventricular canal defect, Bacterial endocarditis, Pulmonic stenosis, ...	ORPHA:3092
Cholera	Tachycardia, Hypovolemic shock, Hypotension	ORPHA:173
Familial Dysautonomia	Optic atrophy, Corneal erosion, Abnormal peritoneum morphology, Corneal opacity, Heterochromia ir...	ORPHA:1764
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal at...	OMIM:273395
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc	OMIM:201100
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Increased circulating thyroglobulin concentra...	OMIM:610199
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Elevated circulating creatinine concentration, Stage 5 c...	OMIM:248250
Temtamy Syndrome	Microphthalmia, Iris coloboma	ORPHA:1777
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Hypotension, Tachycardia, Shock	ORPHA:36234
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hy...	OMIM:617913
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Polyuria, Nephrolithiasis, Parathyroid hyperplasia, Hypercalcemia, Hyperphosphatemia	OMIM:617994
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Hepatic ag...	ORPHA:1692
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Q Fever	Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Abnormal heart valve morphology, P...	ORPHA:781
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat...	ORPHA:449395
Holoprosencephaly	Optic atrophy, Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Panhy...	ORPHA:2162
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Cohen Syndrome	Optic atrophy, Microphthalmia, Iris coloboma, Ventricular septal defect, Abnormality of retinal p...	ORPHA:193
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Iris coloboma, Biliary atresia, Vesicoureteral reflux, Total a...	OMIM:115470
Fanconi Anemia	Microphthalmia, Leukopenia, Hypogonadism, Abnormal cardiac septum morphology, Astigmatism, Hyposp...	ORPHA:84
Imerslund-Gräsbeck Syndrome	Tachycardia	ORPHA:35858
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Focal Dermal Hypoplasia	Microphthalmia, Iris coloboma, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Hydroneph...	ORPHA:2092
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia	OMIM:277400
Mosaic Trisomy 8	Vesicoureteral reflux, Corneal opacity, Decreased testicular size, Hydronephrosis, Cryptorchidism	ORPHA:96061
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Iris coloboma	OMIM:618874
Tbck-Related Intellectual Disability Syndrome	Abnormal circulating lipid concentration, Decreased response to growth hormone stimulation test, ...	ORPHA:488632
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Bacterial endocarditis, Aortic valve calcifica...	ORPHA:2072
Cowden Syndrome 6	Varicocele, Ovarian cyst, Cataract, Goiter, Hydrocele testis	OMIM:615109
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Retinal detachment, Microcornea, Ventric...	OMIM:300166
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Bangstad Syndrome	Abnormality of the parathyroid gland, Polycystic ovaries, Abnormal testis morphology	ORPHA:1227
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Abnormality of iron homeostasis, Hypoparathyr...	ORPHA:231226
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Astigmatism, Retinal coloboma, Abnormal heart morphology, Cataract	OMIM:618571
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Developmental catar...	OMIM:618804
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Pulmonic stenosis, Left ve...	OMIM:619148
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Increased blood ure...	OMIM:154230
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Cockayne Syndrome B	Optic atrophy, Microphthalmia, Hepatomegaly, Renal insufficiency, Microcornea, Hypoplasia of the ...	OMIM:133540
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon...	OMIM:619991
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia, Retinal atrophy, Corneal opacity, Abnormality of retinal pig...	ORPHA:85167
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Microphthalmia, Microcytic anemia, Cataract	OMIM:612379
Cowden Syndrome 5	Cataract, Goiter, Ovarian cyst, Hydrocele testis	OMIM:615108
Oculomaxillofacial Dysostosis	Aplasia/Hypoplasia affecting the eye, Corneal opacity	ORPHA:1794
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Elevated circulating C-rea...	OMIM:617388
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Focal segmental glomerulosclerosis...	OMIM:242900
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Unilateral renal agenesis, Aniridia	ORPHA:1064
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Eisenmenger Syndrome	Right-to-left shunt, Atrial fibrillation, Elevated jugular venous pressure, Supraventricular arrh...	ORPHA:97214
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn...	OMIM:175200
Pierson Syndrome	Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Hypopro...	OMIM:609049
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe, Elevated circulating creatine kinase concentration, Catar...	OMIM:615249
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos, Corneal opacity, Conjunctival hyperemia, Cataract	ORPHA:2399
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Conjunctivitis, Thrombocytopenia, Sp...	OMIM:617591
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Leukopenia, Congenital hepatic fibrosis,...	ORPHA:974
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Microcornea, Male urethral meatus stenosis, Hydronep...	ORPHA:464738
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Peters anomaly, Patent foramen ovale, Axenfeld anomaly, Poste...	OMIM:612582
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, Epistaxis, S...	ORPHA:340
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Norrie Disease	Optic atrophy, Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacit...	ORPHA:649
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Ascites, Nephrotic syndrome, Pericardial effusion, Nephritis, Leukope...	ORPHA:93552
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
3Q29 Microdeletion Syndrome	Microphthalmia, Horseshoe kidney, Hypospadias, Cataract, Subvalvular aortic stenosis	ORPHA:65286
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone ...	OMIM:614083
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Paroxysmal supraventricular tachycardia, Arrhythmia	OMIM:617877
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Graft Versus Host Disease	Tachycardia	ORPHA:39812
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Retinal detachment, Microphthalmia, Oligosacchariduria, Cataract	ORPHA:163649
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cat...	ORPHA:2250
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Congenital Syphilis	Optic atrophy, Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged ...	ORPHA:499009
Rh Deficiency Syndrome	Tachycardia	ORPHA:71275
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Microphthalmia, Ectopic kidney, Hypoplastic labia majora...	OMIM:263650
Systemic Mastocytosis With Associated Hematologic Neoplasm	Syncope, Hypotension, Tachycardia	ORPHA:98849
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia, Sclerocornea, Cataract, Ventricular septal defect, Iris coloboma	ORPHA:251038
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Abnormalit...	ORPHA:231214
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Williams Syndrome	Abnormal circulating lipid concentration, Hypoplasia of penis, Corneal opacity, Pulmonic stenosis...	ORPHA:904
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Sitosterolemia 1	Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elev...	OMIM:210250
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Abnormal leukocyte morphology, Hypoproteinemia, Splenomegaly, Neutropenia, ...	ORPHA:167
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Phace Syndrome	Microphthalmia, Iris coloboma, Optic nerve hypoplasia, Heterochromia iridis, Abnormal heart morph...	ORPHA:42775
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Peters Plus Syndrome	Optic atrophy, Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitar...	ORPHA:709
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Optic nerve hypoplasia, Abnormal heart valve morphology, Corneal ...	ORPHA:536471
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Retinal atrophy, Corneal opacity, Ectopia pupillae, Optic disc coloboma, Lens sub...	OMIM:608940
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Otodental Syndrome	Microphthalmia, Microcornea, Retinal coloboma, Lens coloboma, Cataract, Iris coloboma	ORPHA:2791
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, Hypertrophic ...	ORPHA:505248
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Ascites, Leukocytosis, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Familial Adenomatous Polyposis 4	Uterine leiomyoma, Ovarian cyst, Renal cyst	OMIM:617100
Trichothiodystrophy 4, Nonphotosensitive	Optic atrophy, Microphthalmia, Microcornea, Ventricular septal defect, Keratoconjunctivitis sicca	OMIM:234050
Charge Syndrome	Microphthalmia, Pulmonic stenosis, Dysplastic tricuspid valve, Lymphopenia, Decreased response to...	OMIM:214800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad...	ORPHA:508498
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Ovarian cyst	OMIM:610475
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Retinal coloboma, Renal hypoplasia,...	OMIM:607323
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ...	OMIM:614527
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Incontinentia Pigmenti	Microphthalmia, Retinal detachment, Corneal opacity, Retinal hemorrhage, Keratitis, Cataract, Eos...	ORPHA:464
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C...	OMIM:619259
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Cardiomegaly	OMIM:608013
Frontofacionasal Dysplasia	Microphthalmia, Microcornea, Brushfield spots, Cataract, Limbal dermoid, Iris coloboma	ORPHA:1791
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Crimean-Congo Hemorrhagic Fever	Hematemesis, Myocarditis, Melena, Bradycardia, Capillary leak, Hypertension, Hypotension, Retinal...	ORPHA:99827
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Hypoplasia of the thymus, Renal hypoplasia, Ureteral a...	OMIM:617666
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619665
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Anemia...	ORPHA:79259
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Mitral stenos...	OMIM:253200
Autosomal Dominant Hypocalcemia	Optic atrophy, Hypercalciuria, Hypocalcemia, Hypermagnesiuria, Nephrocalcinosis, Hypomagnesemia, ...	ORPHA:428
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Antecubital pterygium, Vaginal atresia, Hypoplasia of the ...	OMIM:616258
Adams-Oliver Syndrome 2	Optic atrophy, Microphthalmia, Developmental cataract	OMIM:614219
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hypospadias, Unilateral renal agenesis, Hyperurice...	OMIM:137920
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
De Barsy Syndrome	Cataract, Corneal opacity, Cryptorchidism, Ventricular septal defect	ORPHA:2962
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Abnormality of iron homeostasis, Hy...	OMIM:222470
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomyopathy, Mucopolysacchariduria, Hyperop...	OMIM:252600
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Co...	ORPHA:14
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Atrial septal de...	ORPHA:84064
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Accessory s...	OMIM:268300
Temtamy Syndrome	Lens luxation, Ectopia lentis, Microphthalmia, Iris coloboma	OMIM:218340
Townes-Brocks Syndrome	Microphthalmia, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Bifid scrotum, U...	ORPHA:857
Double Outlet Left Ventricle	Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe...	ORPHA:3427
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Peters anomaly, Microphthalmia	OMIM:614526
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactiv...	ORPHA:1304
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Polycystic ovaries	ORPHA:2176
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Premature Ovarian Failure 6	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:612310
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hydroureter, Ectopic kidne...	OMIM:146510
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Smith-Lemli-Opitz Syndrome	Optic atrophy, Clitoral hypertrophy, Abnormality of the gallbladder, Atrioventricular canal defec...	ORPHA:818
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypoplasia of penis, Hypoplasia of...	ORPHA:110
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo...	OMIM:276700
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Microphthalmia, Optic disc coloboma, Iris coloboma	OMIM:169550
Fanconi Anemia, Complementation Group R	Pelvic kidney, Microphthalmia, Anemia, Bone marrow hypocellularity	OMIM:617244
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Acute myeloid leukemi...	OMIM:610832
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Hepatitis, Nephrotic syndrome, Eosinophilia, Renal i...	ORPHA:139402
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Jaundice, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cataract, Stom...	OMIM:608885
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619203
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Ab...	ORPHA:46059
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Mirizzi Syndrome	Tachycardia	ORPHA:521219
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Familial Exudative Vitreoretinopathy	Microphthalmia, Abnormal optic disc morphology, Rhegmatogenous retinal detachment, Tractional ret...	ORPHA:891
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Abnormal heart valve morphology, Corneal opacity	ORPHA:582
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Splenomegaly, Abnormality o...	ORPHA:33226
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein con...	OMIM:615688
Incontinentia Pigmenti	Optic atrophy, Breast hypoplasia, Microphthalmia, Breast aplasia, Retinal detachment, Hypoplastic...	OMIM:308300
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos, Microcornea, Retinal coloboma, Hydronephrosis, Ambiguous genitalia, Iri...	ORPHA:2839
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Acute Intermittent Porphyria	Tachycardia, Hypertension	ORPHA:79276
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Microphthalmia, Hypogonadism, Cataract, Pigmentary retinopathy	OMIM:610651
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hyperuricemia,...	OMIM:232220
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ...	ORPHA:322
Fucosidosis	Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid...	OMIM:230000
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Hepatic...	OMIM:620371
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Conjunctival hyperemia, Conjunctivitis, Hepatic amyloidosis, Cervical lymphadenopathy	OMIM:142680
Papa Syndrome	Lymphadenopathy, Proteinuria	ORPHA:69126
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Lipodystrophy, Familial Partial, Type 2	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypercholesterolemia...	OMIM:151660
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Multiple renal cysts, Splenomegaly, Cardiomegaly, Abnormal...	ORPHA:116
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit...	OMIM:251880
Alpha-Mannosidosis, Infantile Form	Astigmatism, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria, Opt...	ORPHA:309282
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Annular pancreas, Microphthalmia, Hypospadias, Peters anomaly, Patent foramen oval...	OMIM:616975
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia	ORPHA:1438
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Increased serum beta-hexosaminidase, Megalocornea, Hypertrophic ca...	OMIM:252500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Iris coloboma, Aplasia of the thymus, Patent foramen ovale, Hypoplastic nipples, ...	OMIM:620186
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism	OMIM:613546
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology, Elevated 8(9)-cholestenol, Cata...	ORPHA:401973
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Corneopalpebral synechiae, Vaginal atresia, Anophthalmia	OMIM:248450
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Hypokalemia, Long penis, Decreased circulating...	OMIM:202010
Joubert Syndrome 14	Optic atrophy, Microphthalmia, Ventricular septal defect, Renal cyst	OMIM:614424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Elevated circulati...	OMIM:614643
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Vacterl With Hydrocephalus	Microphthalmia, Abnormal fallopian tube morphology, Anophthalmia, Microcornea, Cryptorchidism	ORPHA:3412
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Hypoplasminogenemia	Abnormal fallopian tube morphology, Nephrolithiasis, Cervicitis, Decreased level of plasminogen, ...	ORPHA:722
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Developmental cataract, Ventricular septal...	OMIM:606519
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, Ambiguous genitalia, Crypto...	ORPHA:2166
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Lymphadenopathy, Ele...	OMIM:256040
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Astigmatism, Anemia, Increased mean corpuscular hem...	ORPHA:33364
2Q31.1 Microdeletion Syndrome	Microphthalmia, Ventricular septal defect, Optic disc coloboma, Atrial septal defect, Cryptorchid...	ORPHA:251014
Treacher-Collins Syndrome	Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hypoplasia of the ...	ORPHA:861
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly, Cryptorchidism	OMIM:618143
Cockayne Syndrome A	Optic atrophy, Hepatomegaly, Renal insufficiency, Retinal atrophy, Thymic hormone decreased, Cata...	OMIM:216400
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Microphthalmia, Retinal neovascularization, Shallow anterior chamber	OMIM:305390
Autosomal Recessive Hypophosphatemic Rickets	Hypophosphatemic rickets, Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excret...	ORPHA:289176
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Hypophosphatemic rickets, Renal artery stenosis	OMIM:208000
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Degcags Syndrome	Microphthalmia, Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenita...	OMIM:619488
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Microphthalmia, Hypoplasia of the uterus, Microcornea	OMIM:110100
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Ventricular escape rhythm, Atrioventricular block, Dilated cardiomyo...	ORPHA:98855
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Tatton-Brown-Rahman Syndrome	Supraventricular tachycardia with an accessory connection mediated pathway, Mitral regurgitation,...	ORPHA:404443
Congenital Factor Vii Deficiency	Ovarian cyst	ORPHA:327
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Premature ventricular contraction	OMIM:617072
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosi...	ORPHA:3472
Wolf-Hirschhorn Syndrome	Optic atrophy, Abnormality of the gallbladder, Iris coloboma, Hypospadias, Abnormal heart valve m...	ORPHA:280
Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98853
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, Ab...	ORPHA:797
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity, Unilateral renal agenesis	OMIM:616603
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Optic disc col...	OMIM:608091
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Megalocornea, Hypoplasia of the iris, Acute lymphob...	OMIM:223370
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Atelis Syndrome 2	Microphthalmia, Anemia, Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, ...	OMIM:620185
X-Linked Hypophosphatemia	Hypophosphatemia, Renal phosphate wasting, Hypocalciuria	ORPHA:89936
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Ovarian fibroma, Cardiac fibroma, Cataract, Ovarian carcinom...	OMIM:109400
Steinfeld Syndrome	Microphthalmia, Retinal coloboma, Abnormal heart morphology, Absent gallbladder, Iris coloboma	OMIM:184705
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splen...	ORPHA:2136
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity, Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Microp...	OMIM:617925
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Chime Syndrome	Acute leukemia, Pulmonary valve atresia, Transposition of the great arteries, Corneal opacity, Re...	ORPHA:3474
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Perrault Syndrome 4	Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico...	OMIM:615300
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Hyperkalemia, Clitoral hypertrophy, Premature pubarche, Precocious puberty in...	ORPHA:90794
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Microcornea, Vesicoureteral reflux, Tetralogy of Fallot, B...	ORPHA:959
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:308552
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Behçet Disease	Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Orchitis, Splenomegaly, Abnormal myoca...	ORPHA:117
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Developmental glaucoma, Abnormally large globe, Patent foramen ovale, Mitr...	OMIM:245600
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b...	ORPHA:731
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Galloway-Mowat Syndrome 1	Optic atrophy, Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephro...	OMIM:251300
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Satoyoshi Syndrome	Mildly elevated creatine kinase, Hypoplasia of the uterus	OMIM:600705
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Hepatomegaly, Corneal ulceration, Keratan sulfate excretion in urine...	OMIM:615273
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
X-Linked Emery-Dreifuss Muscular Dystrophy	Supraventricular arrhythmia, Hypertrophic cardiomyopathy, Ventricular escape rhythm, Atrioventric...	ORPHA:98863
Luscan-Lumish Syndrome	Polycystic ovaries	OMIM:616831
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Microcornea, Hypogonadism, Cataract, Keratoconjunctivitis sicca	OMIM:601675
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Abnormal heart morphology, Ovarian cyst, Proteinuria, Hepatic cysts,...	OMIM:311200
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Iris transillumination defect, Microcornea, Microphthalmia	OMIM:617306
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Patent foramen ovale, Cryptorchidism, Ventricular septal de...	OMIM:613884
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Microcornea, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Increased total iron binding capacity, Abnormal blood inorganic cation co...	ORPHA:309854
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Hepatomegaly, Chronic noninfectious lymphadenopathy, El...	ORPHA:97287
Acute Promyelocytic Leukemia	Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
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
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia	ORPHA:435638
Aniridia 1	Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ...	OMIM:106210
Larsen Syndrome	Corneal opacity, Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:150250
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He...	ORPHA:1359
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Charge Syndrome	Optic atrophy, Microphthalmia, Abnormal aortic valve morphology, Iris coloboma, Anterior hypopitu...	ORPHA:138
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Arrhythmia, Ventricular bigeminy, Left bundle branch block	OMIM:610131
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Elevated circulating uroporp...	OMIM:263700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Cataract, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism,...	OMIM:603457
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Microcornea, Hydronephrosis, Microphthalmia	ORPHA:35173
Ablepharon Macrostomia Syndrome	Breast hypoplasia, Abnormal female external genitalia morphology, Corneal erosion, Hypoplasia of ...	ORPHA:920
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj...	ORPHA:99826
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Keratan sulfate excretion in urine, Abnormal heart valve morphology, Chondroitin su...	OMIM:253000
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci...	OMIM:618419
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Aorta Coarctation	Bicuspid aortic valve, Perimembranous ventricular septal defect, Abnormal left ventricular outflo...	ORPHA:1457
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot,...	OMIM:100300
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular...	ORPHA:268
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Ocular albinism, Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal h...	OMIM:309500
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Microphthalmia, Microcornea, Zonular cataract, Hypogonadism, Cataract, Cryptorc...	OMIM:268400
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Bicuspid aortic valve, Cardiomegaly, Perimembranous ven...	OMIM:300855
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Traboulsi Syndrome	Microphthalmia, Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow...	OMIM:601552
Al-Gazali Syndrome	Sclerocornea, Hydronephrosis, Corneal opacity	OMIM:609465
Aicardi-Goutières Syndrome	Developmental glaucoma, Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertr...	ORPHA:51
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Neuroblastoma	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, An...	ORPHA:635
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Skin Creases, Congenital Symmetric Circumferential, 1	Microcornea, Hypoplastic nipples, Microphthalmia	OMIM:156610
Monosomy 9Q22.3	Cardiac fibroma, Ovarian fibroma, Microphthalmia, Cataract	ORPHA:77301
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Dense posterior cortical cataract, Microphthalm...	OMIM:309000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Popliteal pterygium, Microphthalmia, Hypospadias, Bifid scrotum, Total anomalous pulmonary venous...	OMIM:609945
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Nasopalpebral Lipoma-Coloboma Syndrome	Conjunctival hyperemia, Microphthalmia	OMIM:167730
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Hypertriglyceridemia, Cervical lymphadenopathy, Jaundice, Hepatomega...	OMIM:619573
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Conjunctivitis, Eosinophilia, Renal ins...	ORPHA:293173
Wiedemann-Rautenstrauch Syndrome	Optic atrophy, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Hypos...	ORPHA:3455
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Curry-Jones Syndrome	Microphthalmia, Optic disc coloboma, Iris coloboma	ORPHA:1553
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Ventricular septal defect, Precocious puber...	OMIM:194190
Mucolipidosis Iii Gamma	Mucopolysacchariduria, Opacification of the corneal stroma, Increased serum beta-hexosaminidase, ...	OMIM:252605
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia, Corneal opacity	OMIM:601812
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microphthalmia, Microcornea, Corneal opacity,...	OMIM:175780
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Gaucher Disease Type 3	Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma	ORPHA:454840
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Optic atrophy, Microphthalmia, Astigmatism, Ectopia pupillae, Cataract	OMIM:618727
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse	OMIM:259600
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyperkalemia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula,...	OMIM:201750
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Keratoconjunctivitis, Cataract, Eosinophilia, Opacificatio...	OMIM:158310
Oculoectodermal Syndrome	Astigmatism, Microcornea, Hypertrophic cardiomyopathy, Bladder exstrophy, Limbal dermoid, Atrial ...	OMIM:600268
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, ...	ORPHA:3103
Monosomy 18P	Microphthalmia	ORPHA:1598
Oculo-Palato-Cerebral Syndrome	Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract	ORPHA:2714
Lymphedema-Distichiasis Syndrome	Recurrent corneal erosions, Microphthalmia, Corneal ulceration, Tetralogy of Fallot, Conjunctivit...	OMIM:153400
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Hydronephrosis, Elevated 8(9)-cholestenol, Cataract, Elevated 8-dehydrocholesterol	OMIM:302960
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma, Decreased response to growth hormone stimulation test	OMIM:601853
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Urinary retention...	ORPHA:97297
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Hallermann-Streiff Syndrome	Microphthalmia, Optic disc coloboma, Cataract, Cryptorchidism, Iris coloboma	OMIM:234100
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Developmental cataract, Microphthalmia	OMIM:302350
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Ascites, Lymphadenitis, Splenomegaly, Impaired oxid...	OMIM:306400
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Moebius Syndrome	Corneal opacity, Hypogonadotropic hypogonadism, Breast aplasia	ORPHA:570
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Left ventricular noncompaction, Ventricular septal defect, Left ventricular...	OMIM:300967
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circu...	ORPHA:449563
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla...	ORPHA:3384
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Atrioventricular canal defect, Splenomegaly, Vaginal atresia, Hor...	OMIM:617088
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Cataract, Pericarditis, Keratitis, S...	ORPHA:90340
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Ventricular arrhythmia	OMIM:620475
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Autoimmune Polyendocrinopathy Type 1	Adrenal hyperplasia, Opacification of the corneal stroma, Hypoparathyroidism, Cataract	ORPHA:3453
Kindler Epidermolysis Bullosa	Anemia, Phimosis, Corneal opacity, Conjunctivitis, Urethral stricture, Neoplasm of the urethra	ORPHA:2908
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Pontocerebellar Hypoplasia Type 7	Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of th...	ORPHA:284339
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Tricuspid stenosis, Chronic n...	ORPHA:100079
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Microphthalmia, Persistent pupillary membrane, Elevated circulating creatine kinase concentration...	OMIM:613150
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Frontorhiny	Hypopituitarism, Microphthalmia, Cataract, Iris coloboma	ORPHA:391474
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Bifid scrotum, Iris atrophy, Pulmonic stenosis, Aortic valv...	ORPHA:261552
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Anoperineal fistu...	OMIM:619381
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction	OMIM:620504
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Neurofibromatosis Type 1	Pheochromocytoma, Corneal opacity, Heterochromia iridis, Precocious puberty, Abnormality of retin...	ORPHA:636
Oculodentodigital Dysplasia, Autosomal Recessive	Cataract, Microcornea, Microphthalmia, Persistent pupillary membrane	OMIM:257850
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defe...	OMIM:272950
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Microphthalmia, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv...	OMIM:278730
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Hyperlipidemia, Elevated circulating creatine...	ORPHA:565612
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Microcornea, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Hypertrophic ca...	OMIM:615846
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias,...	ORPHA:672
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Conjunctival icterus, Ascites, Urethrovaginal fistula, Splenomegaly, Septat...	OMIM:243800
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261537
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Abnormality o...	ORPHA:2526
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Microcornea, Bifid scrotum, Ventricular septal defect, Pulmonic sten...	OMIM:235730
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Developmental cataract, Abdominal situs inversus	ORPHA:2108
Limb Body Wall Complex	Ectopia cordis, Corneal opacity, Abnormal heart morphology, Abnormality of the liver, Atrial sept...	ORPHA:2369
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity	ORPHA:364577
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Popliteal Pterygium Syndrome	Popliteal pterygium, Bifid scrotum, Intercrural pterygium, Hypoplasia of the vagina, Small scrotu...	OMIM:119500
Xeroderma Pigmentosum	Optic atrophy, Pterygium, Decreased testicular size, Conjunctival telangiectasia, Keratitis, Hypo...	ORPHA:910
Myhre Syndrome	Microphthalmia, Ventricular septal defect, Aortic valve stenosis, Pericardial effusion, Cataract,...	OMIM:139210
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Retinal hemorrhage, Cellular urinar...	ORPHA:509
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect, Ectopic kidney, Iris coloboma	ORPHA:268249
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity, Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis, E...	ORPHA:100078
Neurocardiofaciodigital Syndrome	Double inlet left ventricle, Vesicoureteral reflux, Tetralogy of Fallot, Sclerocornea, Cataract, ...	OMIM:619869
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Keratoconjunctivitis sicca, Lymphad...	ORPHA:79078
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Limb-Mammary Syndrome	Chronic irritative conjunctivitis, Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Ab...	ORPHA:69085
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Acute kidney injury, Hypocalcemia, Elevated circulating creatine kinase concentrati...	ORPHA:466650
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Microphthalmia, Hypoplastic nipples, Absent nipple, Abnormal heart morphol...	OMIM:612289
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:2152
Neu-Laxova Syndrome 1	Microphthalmia, Transposition of the great arteries, Pterygium, Patent foramen ovale, Cryptorchid...	OMIM:256520
Oculodentodigital Dysplasia	Microphthalmia, Neurogenic bladder, Microcornea, Cataract, Atrial septal defect	OMIM:164200
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Cataract, Precocious puberty, Optic disc colob...	OMIM:304050
Aicardi Syndrome	Optic atrophy, Microphthalmia, Retinal detachment, Precocious puberty, Abnormality of retinal pig...	ORPHA:50
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Atrial septal defect, Cirrhosis, Increased circulating gonadotropin le...	ORPHA:881
Hutchinson-Gilford Progeria Syndrome	Abnormal aortic valve morphology, Corneal ulceration, Hypoplastic male external genitalia, Ventri...	ORPHA:740
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal atrophy, Elevated circulat...	OMIM:253280
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Autosomal Dominant Progressive External Ophthalmoplegia	Reduced left ventricular ejection fraction, Atrial fibrillation, Ventricular arrhythmia, Arrhythm...	ORPHA:254892
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Tricuspid valve prolapse, Corneal opacity, Iris coloboma	ORPHA:2396
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Astigmatism, Hydroureter, Corneal erosion, Corneal opacity, Hydronephrosis, Keratitis, Conjunctiv...	ORPHA:2273
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Ven...	OMIM:107480
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, H...	OMIM:305600
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Astigmatism, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uteru...	OMIM:135900
Microphthalmia With Limb Anomalies	Optic atrophy, Microphthalmia, True anophthalmia, Cryptorchidism, Horseshoe kidney	ORPHA:1106
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Unilateral renal agenesis, Optic nerve hypoplasia, Pelvic ...	ORPHA:468631
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Tetralogy of Fallot, Absent gallbladder, Overriding aorta, Iris coloboma	ORPHA:3186
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v...	ORPHA:100075
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple, Iris coloboma	ORPHA:1236
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Hyperlipidemia, Spleno...	ORPHA:64
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia, Corneal opacity	ORPHA:79396
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Multicystic kidney dysplasia, Retinal dysplasia, Elevated circulating crea...	OMIM:615287
Fraser Syndrome	Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor...	ORPHA:2052
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Retinal co...	OMIM:113620
Neuroocular Syndrome	Microphthalmia, Patent foramen ovale, Stellate iris, Microcornea, Remnants of the hyaloid vascula...	OMIM:619539
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Microcornea, Female hypogonadism, Renal h...	OMIM:607932
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Retinal calcification, Iris atrophy, Absent anterior chamber of the eye, Cataract...	OMIM:259770
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Keratoconus, Cryptorchidism, Uterine prolapse, Mitral valve prola...	OMIM:130050
Plague	Hematemesis, Arrhythmia, Hypotension, Tachycardia	ORPHA:707
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertrophic cardiomyopathy, Le...	ORPHA:365
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
African Trypanosomiasis	Myocarditis, Jaundice, Urinary incontinence, Lymphadenopathy, Hepatomegaly, Iritis, Abnormal prol...	ORPHA:3385
Marfan Syndrome	Congestive heart failure, Aortic regurgitation, Mitral regurgitation, Ventricular tachycardia, Ab...	ORPHA:558
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Woodhouse-Sakati Syndrome	Hypoplasia of the uterus, Hyperlipidemia, Hypoplasia of the fallopian tube, Hypergonadotropic hyp...	OMIM:241080
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve, Abnormality iris morphology	ORPHA:91387
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Corneal opacity, Dilatation of the ventricular cavity, Bladder diverti...	ORPHA:90348
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus	OMIM:615866
Osteogenesis Imperfecta	Abnormal endocardium morphology, Hypercalciuria, Corneal opacity, Nephrolithiasis, Thrombocytopen...	ORPHA:666
Generalized Arterial Calcification Of Infancy	Hypophosphatemic rickets, Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Retinal h...	ORPHA:51608
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Spondyloepiphyseal Dysplasia, Maroteaux Type	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:184095
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Iris coloboma, Hypospadias, Peters anomaly, Ventricul...	OMIM:261540
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Atrial fibrillation, Supraventricular tachycardia, Cardiac...	ORPHA:273
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism, Abnormal heart morph...	OMIM:154500
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Supraventricular tachycardia	OMIM:181270
Acromelic Frontonasal Dysostosis	Hypopituitarism, Optic nerve hypoplasia, Cryptorchidism, Remnants of the hyaloid vascular system	OMIM:603671
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Unilateral renal agenesis, Optic nerve h...	ORPHA:508488
Cherubism	Macular scar, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
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
Hereditary Acrokeratotic Poikiloderma	Opacification of the corneal stroma, Keratoconjunctivitis, Abnormal preputium morphology, Abnorma...	ORPHA:2907
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia, Iris coloboma	ORPHA:2612
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Microphthalmia, Syndromic 1	Microphthalmia, Ciliary body coloboma, Hydroureter, Hypospadias, Anophthalmia, Microcornea, Renal...	OMIM:309800
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Apolipoprotein A-I Deficiency	Abnormal circulating lipid concentration, Opacification of the corneal stroma, Decreased HDL chol...	ORPHA:425
Acrofrontofacionasal Dysostosis 1	Optic atrophy, Microphthalmia, Iris atrophy	OMIM:201180
Legius Syndrome	Pulmonic stenosis, Paroxysmal atrial tachycardia	ORPHA:137605
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Ventricular arr...	ORPHA:91347
Vascular Ehlers-Danlos Syndrome	Hypospadias, Hypokalemia, Uterine rupture, Abnormal heart valve morphology, Keratoconus, Renovasc...	ORPHA:286
Holoprosencephaly 1	Microphthalmia, Micropenis, Single ventricle	OMIM:236100
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Single ventricle, Remnants of the hyaloid vascular s...	OMIM:157170
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Mic...	OMIM:613406
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo...	ORPHA:99889
Curry-Jones Syndrome	Microphthalmia, Iris coloboma	OMIM:601707
Congenital Total Pulmonary Venous Return Anomaly	Low-output congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Ri...	ORPHA:99125
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism, Iris coloboma	OMIM:610828
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Hemolytic anemia, ...	ORPHA:536
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Unilateral renal agenesis, Hypospadias, K...	OMIM:308205
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Frontofacionasal Dysplasia	Cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:229400
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Van Den Ende-Gupta Syndrome	Sclerocornea	OMIM:600920
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Full Nf2-Related Schwannomatosis	Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system	ORPHA:637
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Ventricular s...	OMIM:601803
Marshall-Smith Syndrome	Premature ventricular contraction, Hypertension, Pulmonary arterial hypertension	OMIM:602535
Yunis-Varon Syndrome	Hypospadias, Patent foramen ovale, Hypoplastic nipples, Ventricular septal defect, Absent nipple,...	OMIM:216340
Monosomy 13Q14	Cataract, Microphthalmia, Iris coloboma	ORPHA:1587
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250

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
Heart - MPATH pathological process term hypertrophy	Fsd2^em1(IMPC)Mbp	HOM		Late 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 Fsd2.

No publications found that use IMPC mice or data for Fsd2.

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MGI Allele	Allele Type	Produced
Fsd2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Fsd2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Fsd2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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: Fsd2 MGI:2444310

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Human diseases caused by Fsd2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data