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Gene: Fsd2 MGI:2444310

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Gene Summary

Name:
fibronectin type III and SPRY domain containing 2
Synonyms:
9830160G03Rik,  Spryd1

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal lymph node morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
enlarged heart Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal uterus morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
enlarged ovary Fsd2em1(IMPC)Mbp HOM Late adult 0.00
shortened RR interval Fsd2em1(IMPC)Mbp HOM Early adult 1.69×10-06
corneal opacity Fsd2em1(IMPC)Mbp HOM Late adult 8.89×10-05
increased heart rate Fsd2em1(IMPC)Mbp HOM Early adult 2.88×10-07
small kidney Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
decreased circulating phosphate level Fsd2em1(IMPC)Mbp HOM Late adult 6.01×10-05
enlarged spleen Fsd2em1(IMPC)Mbp HOM Late adult 0.00
enlarged seminal vesicle Fsd2em1(IMPC)Mbp HOM Late adult 0.00
absent seminal vesicle Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Fsd2em1(IMPC)Mbp HOM Early adult 0.00
abnormal ovary morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal vitreous body morphology Fsd2em1(IMPC)Mbp HOM   Late adult 5.27×10-06
microphthalmia Fsd2em1(IMPC)Mbp HOM Late adult 0.00
increased heart weight Fsd2em1(IMPC)Mbp HOM Late adult 1.48×10-14
abnormal eye morphology Fsd2em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Fsd2em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Fsd2em1(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

33 Images

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X-ray

XRay Images Whole Body Dorso Ventral

36 Images

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X-ray

XRay Images Whole Body Lateral Orientation

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 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.

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 Similarity of
phenotypes		 Matching phenotypes Source
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia ORPHA:3283
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation 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, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death OMIM:615770
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... OMIM:619897
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... OMIM:614954
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block OMIM:615616
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center OMIM:235550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
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
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly, Corneal opacity, Microcornea ORPHA:2432
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Variegate Porphyria
Tachycardia OMIM:176200
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Supraventricular tachyc... ORPHA:90064
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro... OMIM:613690
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom... OMIM:613873
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Ethanolaminosis
Cardiomegaly OMIM:227150
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric... OMIM:612158
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613424
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ... ORPHA:90301
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,... OMIM:604169
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries OMIM:184700
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, 3-Methylglutaconic aciduria, Cataract OMIM:619813
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Precocious puberty, Long penis, Nephrocalcinosis, Ca... ORPHA:769
Atrial Septal Defect 6
Atrial fibrillation, Bradycardia OMIM:613087
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o... ORPHA:290
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... OMIM:616201
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cryptorchid... OMIM:613730
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Coproporphyria, Hereditary
Hypertension, Tachycardia OMIM:121300
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Corneal opacity, Thrombocytopenia ORPHA:1980
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Jaundice, Lymp... ORPHA:858
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Corneal opacity, Cryptorchidism, Dilated cardiomyopathy, Micropenis, Developmental c... OMIM:618815
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Enlarged polycystic ovar... ORPHA:2298
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... ORPHA:93476
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicour... ORPHA:2745
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Peutz-Jeghers Syndrome
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Biliary tract neoplasm, Abnormality of th... ORPHA:2869
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Hypophosphatemia, Iris coloboma, Aplasia/Hypoplasia of the ... ORPHA:2611
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Developmental cataract, Left ventricular hypertrophy, ... ORPHA:335
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... OMIM:239200
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... ORPHA:91348
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uter... OMIM:615524
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Leprechaunism
Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Labial hy... ORPHA:508
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:613313
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... ORPHA:263297
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Microphthalmia, Posterio... ORPHA:1473
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati... OMIM:603552
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia affecting the eye, Hypogonadotropic hypogonadism, Opacification of the corneal... ORPHA:1643
Dent Disease 2
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... OMIM:300555
Mmep Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect ORPHA:3434
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Fish-Eye Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Splenomegaly, Lymphadenop... ORPHA:79292
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... OMIM:224700
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperphosphaturia, Pancytopenia, Elevated circulating growth hor... ORPHA:562
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Cystinosis
Renal insufficiency, Proteinuria, Corneal opacity, Portal hypertension, Renal tubular dysfunction... ORPHA:213
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Sialidosis Type 2
Hepatomegaly, Corneal opacity, Splenomegaly, Nephropathy, Ascites ORPHA:87876
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... ORPHA:99879
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Lipodystrophy, Partial, Acquired, Susceptibility To
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... OMIM:608709
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia ORPHA:100025
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... ORPHA:1067
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... OMIM:602390
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Elevated circulating creatine kinase concentration... OMIM:613153
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171420
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia ORPHA:276608
Mosaic Trisomy 9
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ab... ORPHA:99776
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid OMIM:206400
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal aortic valve morphology, Corneal opacity ORPHA:577
Kerion Celsi
Lymphadenopathy ORPHA:499
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis OMIM:268650
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid... ORPHA:2470
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Peters anomaly, Atrial septal ... OMIM:618652
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... ORPHA:400
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph... ORPHA:100024
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Hepatocellular carcinoma, Hypercalciuria, ... ORPHA:2088
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Galactose Epimerase Deficiency
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria ORPHA:79238
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia OMIM:118830
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Corneal opacity ORPHA:2370
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... OMIM:614022
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Hypogonadism, Microphthalmia ORPHA:1466
Hyperinsulinism Due To Hnf1A Deficiency
Tachycardia, Syncope, Palpitations ORPHA:324575
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hy... OMIM:620010
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cataract, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic sei... OMIM:146200
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Bone-marro... OMIM:256550
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Danon Disease
Wolff-Parkinson-White syndrome, Congestive heart failure, Dilated cardiomyopathy, Ventricular tac... OMIM:300257
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Galactosialidosis
Corneal opacity ORPHA:351
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, ... ORPHA:281090
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, A... OMIM:616026
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Abnormal external genitalia, Ventricular septal defect ORPHA:3469
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Dermoids Of Cornea
Corneal opacity OMIM:304730
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, 3-Methylglutaco... ORPHA:496790
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop... OMIM:617222
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... OMIM:607685
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia OMIM:230350
Preeclampsia
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Polycystic ov... ORPHA:275555
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy OMIM:608540
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia OMIM:616171
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology ORPHA:33111
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... OMIM:613101
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries ORPHA:79084
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Thrombocytope... OMIM:619743
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Intrahepatic cholestasis, ... OMIM:227810
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... ORPHA:66529
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Meckel Syndrome, Type 8
Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthal... OMIM:613885
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries ORPHA:488191
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Papilledema, Transient hypophosphatemia, Developmental cataract, Retinal calc... OMIM:127000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Brushfield spots, Cryptorchidism, Jaundi... OMIM:214110
Trisomy 13
Anophthalmia, Ventricular septal defect, Cataract, Cryptorchidism, Abnormality of the ureter, Opt... ORPHA:3378
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... OMIM:600118
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Abnormal heart morphology... ORPHA:1867
Aromatase Deficiency
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... ORPHA:91
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Hypospadias, Cor... ORPHA:912
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Astigmatism, Hyperphosp... ORPHA:2323
Winchester Syndrome
Corneal opacity OMIM:277950
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... ORPHA:363741
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, Retinal degeneration OMIM:251700
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Hypercalciuri... ORPHA:157215
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia ORPHA:1046
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... OMIM:241530
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Oliguria, Abnormal blood ion concen... ORPHA:31824
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Hypospadias, Optic nerve hypoplasia, Corneal opacity, El... OMIM:301056
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:613426
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Ambiguous genitalia, Adrenal hyperpla... ORPHA:95699
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Tachycardia OMIM:613870
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Cataract, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Microphthalmi... OMIM:618805
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Alpha-Mannosidosis
Splenomegaly, Hepatomegaly, Cataract, Corneal opacity ORPHA:61
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcem... ORPHA:99880
Mucolipidosis Iv
Corneal opacity, Abnormal abdomen morphology, Optic atrophy, Opacification of the corneal stroma,... OMIM:252650
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Mulibrey Nanism
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig... OMIM:253250
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Vag... OMIM:619318
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal... OMIM:264700
Timothy Syndrome
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... OMIM:601005
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... OMIM:619868
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen, Hypocalcemia, Aniridia, Microphthalmia, Micropenis, Ascites OMIM:602361
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia OMIM:619737
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Retinal detachment, Corneal opacity, Isosexual precocious puberty ORPHA:2788
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Parathyroid Carcinoma
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Hypercalcem... ORPHA:143
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... OMIM:300554
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Po... ORPHA:3085
Juvenile Sialidosis Type 2
Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal heart morphology, Hepatosplenome... ORPHA:93399
Erythrokeratodermia Variabilis
Abnormal testis morphology, Corneal opacity, Cataract ORPHA:317
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentratio... OMIM:614034
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Anophthalmia, Corneal opacity, Cataract, Cryptorchidism,... ORPHA:899
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Cataract, Splenomegaly, Abnormality of the parathyroid gl... ORPHA:2969
Metaphyseal Chondrodysplasia, Jansen Type
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... OMIM:156400
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Hereditary Fructose Intolerance
Hepatomegaly, Renal insufficiency, Cataract, Jaundice, Chronic kidney disease, Hypermagnesemia, H... ORPHA:469
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, Abnormal heart m... ORPHA:93400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypospadias, Hypogonadotropic hypogonadism ORPHA:141333
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Nephrolithiasis, Hypocalcemia, Hypophosphatemia ORPHA:93160
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Cardiomegaly OMIM:300886
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hyperphosphatemia, Hypocal... OMIM:241410
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia OMIM:612286
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Adrenocorticotrop... ORPHA:100083
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... OMIM:615285
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Autoimmune hypoparathyroidism, Hyperphosphatemia, Conjunctivit... ORPHA:36913
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Adams-Oliver Syndrome 4
Atrial septal defect, Microphthalmia, Ventricular septal defect OMIM:615297
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H... ORPHA:667
Microphthalmia, Syndromic 9
Anophthalmia, Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Hypoplastic le... OMIM:601186
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation ORPHA:35612
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia OMIM:612287
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia, Cataract, Ventricular septal defect ORPHA:93267
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia OMIM:601794
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Abnormal heart morphology,... ORPHA:494344
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Proteinuria, Glomerulonephritis, Lenticonus, Stage 5 chronic kidney disease,... OMIM:104200
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Hypophosph... OMIM:612089
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Conjunctivitis OMIM:240500
Myotonic Dystrophy 2
Right bundle branch block, Tachycardia, Palpitations, Premature ventricular contraction OMIM:602668
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Pierpont Syndrome
Microphthalmia, Cryptorchidism, Micropenis, Microcornea OMIM:602342
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinos... ORPHA:534
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Decreased response to growth hormone stimulation test, Optic nerve hyp... OMIM:609053
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan... ORPHA:1655
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o... ORPHA:54251
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... OMIM:619170
Pseudohypoparathyroidism, Type Ic
Cataract, Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Hypocalcemia, Low urinary cy... OMIM:612462
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma ORPHA:882
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Myopic astigmatism, Optic atrophy, Microcornea, As... OMIM:152950
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis, Polycystic ovaries ORPHA:280356
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... OMIM:613388
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Corneal opacity, Cataract, Splenomegaly, Increa... ORPHA:812
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Corneal crystals, Abnormal blood ion concentration, Hypophosphatemia, Renal tu... ORPHA:411629
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy... ORPHA:2348
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat... OMIM:618886
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Sclerocornea, Cryptorc... ORPHA:77298
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Multiple Sulfatase Deficiency
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Optic... ORPHA:585
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Dilated cardiomyopathy, Ventricular tachycardia, Atrioventric... ORPHA:26793
Pierpont Syndrome
Microphthalmia, Cryptorchidism, Microcornea ORPHA:487825
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... ORPHA:79477
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Abnormal testis morphology, Polycystic ovaries ORPHA:100
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia ORPHA:172
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... ORPHA:137675
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617182
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Buphthalmos, Microcornea, Anterior synechiae of the ante... OMIM:269400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... ORPHA:2239
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... ORPHA:314473
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H... ORPHA:79083
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, H... OMIM:602782
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... OMIM:619658
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity ORPHA:90654
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618982
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microcornea, Microphthalmia, Cataract, Hypogonadotropic hypogonadism ORPHA:48431
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Optic atrophy, Developmental cataract, Corneal opacity OMIM:617183
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia ORPHA:79264
Meckel Syndrome
Ureteral duplication, Anophthalmia, Sclerocornea, Asplenia, Microcornea, Urethral atresia, Access... ORPHA:564
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Vitamin D-Dependent Rickets, Type 2A
Hypocalcemic seizures, Secondary hyperparathyroidism, Hypophosphatemia OMIM:277440
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy OMIM:611762
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly ORPHA:309288
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypoplastic labia majora, Retinal coloboma, Micro... ORPHA:2328
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism, Low urinary cyclic AMP response to PTH... OMIM:603233
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Microphthalmia, Anophthalmia, Iris coloboma OMIM:616428
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... OMIM:620282
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... OMIM:217300
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
High Altitude Pulmonary Edema
Tachycardia ORPHA:330012
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Bradycardia OMIM:614302
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Cataract, Enlarged polycystic ovaries, Adenoma ... ORPHA:201
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism ORPHA:397685
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia,... ORPHA:79312
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... OMIM:618963
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Sclerocornea, Ovotestis, Cataract, Hypo... OMIM:309801
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Hypocalcemia, Autosomal Dominant 1
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... OMIM:601198
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Hematuria, Microphthalmia, Cataract, Iris coloboma OMIM:120433
Fibrous Dysplasia Of Bone
Precocious puberty in females, Hypercalcemia, Testicular neoplasm, Elevated circulating growth ho... ORPHA:249
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Hypophosphatemic Rickets, X-Linked Dominant
Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, H... OMIM:307800
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... OMIM:615745
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Optic atrophy OMIM:274270
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia ORPHA:542306
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Refsum Disease
Abnormality of retinal pigmentation, Renal insufficiency, Cataract, Splenomegaly, Cardiomyopathy,... ORPHA:773
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... ORPHA:264580
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Hypocalcemia, Secondary hyperparathyroidism, Hypophosphatemia, Hypocal... ORPHA:289157
Bresek Syndrome
Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, ... ORPHA:85284
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... OMIM:618494
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Pseudohypoparathyroidism, Type Ia
Cataract, Pseudohypoparathyroidism, Hyperphosphatemia, Hypogonadism, Low urinary cyclic AMP respo... OMIM:103580
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism, Microcornea OMIM:601349
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy OMIM:617772
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Sclerocornea, Cryptorchidism, Limbal dermoid, Hypoplasia of the iris, ... OMIM:613001
Morquio Syndrome C
Corneal opacity OMIM:252300
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology ORPHA:1617
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Pseudohypoparathyroidism OMIM:203330
Congenital Generalized Lipodystrophy
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... ORPHA:528
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:212140
Tularemia
Tachycardia ORPHA:3392
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Hypophosphatemia OMIM:600081
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Hyperbilirubinemia, Reticulocytosis OMIM:179700
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Sickle Cell Disease
Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Splenic infarcti... OMIM:603903
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Cataract, Elevated circulating creatine kina... ORPHA:1652
Hurler Syndrome
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Enlarged tonsils... OMIM:607014
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Cardiac-Urogenital Syndrome
Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe... OMIM:618280
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... ORPHA:60041
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... OMIM:171300
Tangier Disease
Orange discolored tonsils, Hypertriglyceridemia, Corneal opacity, Chronic noninfectious lymphaden... ORPHA:31150
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Griscelli Syndrome
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... ORPHA:381
Refsum Disease, Classic
Cataract, Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnorma... OMIM:266500
Kapur-Toriello Syndrome
Cataract, Ventricular septal defect, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, ... OMIM:244300
Nanophthalmos 4
Microphthalmia, Optic disc drusen OMIM:615972
Gm1 Gangliosidosis
Ventricular septal defect, Corneal opacity, Splenomegaly, Optic atrophy, Abnormal heart morpholog... ORPHA:354
Roifman Syndrome
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat... ORPHA:353298
Lowry-Maclean Syndrome
Hypospadias, Corneal opacity, Bilateral cryptorchidism, Abnormality of the abdominal organs, Deve... ORPHA:2409
Cinca Syndrome
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, L... OMIM:607115
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Developmental... OMIM:613155
Stiff-Person Syndrome
Hypertension, Tachycardia OMIM:184850
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... OMIM:271500
Scheie Syndrome
Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Corneal opacity ORPHA:93474
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... OMIM:614702
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Warburg Micro Syndrome 3
Small scrotum, Cataract, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... OMIM:614222
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Cryptorchidism, Abnormal cardiac sept... ORPHA:2059
Meacham Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Ambiguous genitalia,... ORPHA:3097
Scheie Syndrome
Aortic valve stenosis, Corneal opacity, Retinal degeneration OMIM:607016
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia OMIM:251270
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia, Ocular anterior segment dysgenesis, Retinal dysplasia, Developmental cataract ORPHA:324416
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat... OMIM:619644
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Microphtha... OMIM:617914
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP res... ORPHA:94090
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Cataract, Sclerocornea, Cryptorchidism, Microcornea, Microphthalmia, Iris coloboma ORPHA:139471
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Iris coloboma, Anophthalmia, Bilateral microphthalmos OMIM:611638
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis OMIM:610756
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Hypoplasia of the ... OMIM:604229
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Micro Syndrome
Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Cryptorchidism, Hypoplastic l... ORPHA:2510
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Congestive heart failure, Cardiac arrest ORPHA:49827
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... ORPHA:314478
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia OMIM:229700
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Optic disc pallor, Atrial septal defect, Microphthalmia, Tetralogy of Fa... OMIM:300887
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly OMIM:610023
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Microphthalmia... OMIM:615663
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... ORPHA:85414
Microphthalmia, Isolated 6
Microcornea, Microphthalmia OMIM:613517
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Hyperprolinemia, Cardiomegaly OMIM:619064
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... OMIM:616860
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Hypoplastic labia... OMIM:614225
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Splenomegaly, Anemia ORPHA:75563
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Multiple Sulfatase Deficiency
Hepatomegaly, Corneal opacity, Splenomegaly, Mucopolysacchariduria, Retinal degeneration OMIM:272200
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... OMIM:120200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... ORPHA:79240
Cold Agglutinin Disease
Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Bilateral microphthalmos, Developmental cataract, Retinal calcification, Hypocalcemi... ORPHA:93325
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Cardiomyopathy, Familial Hypertrophic, 27
Pterygium, Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, ... OMIM:618052
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N... OMIM:214900
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus m... ORPHA:2334
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Phthisis bulbi, Leukocoria, R... OMIM:221900
Roifman Syndrome
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophilia, Splenomegaly... OMIM:616651
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Anophthalmia, Cataract, Optic nerve hypoplasia, Cryptorchidism, Micr... OMIM:610125
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Mic... ORPHA:3301
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma OMIM:300915
Hurler-Scheie Syndrome
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate... OMIM:607015
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Hypodontia-Dysplasia Of Nails Syndrome
Polycystic ovaries ORPHA:2228
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
16P12.1P12.3 Triplication Syndrome
Tachycardia ORPHA:485405
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Hereditary Coproporphyria
Tachycardia ORPHA:79273
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Legionnaires Disease
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Splenomegaly, Jaundice... ORPHA:549
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelp... ORPHA:2237
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... ORPHA:650
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... ORPHA:615
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... OMIM:613179
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Alpha-N-Acetylgalactosaminidase Deficiency
Cataract, Oligosacchariduria, Cardiomegaly ORPHA:3137
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Vesicour... OMIM:603467
Distal Deletion 10P
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries ORPHA:1580
Wilson Disease
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Kayser-Fleischer ring, Cirrhos... ORPHA:905
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Corneal opacity, Thrombocytopenia, Lymphadenopat... ORPHA:333
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia ORPHA:352540
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma OMIM:614497
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:284160
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Stromme Syndrome
Accessory spleen, Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Mic... OMIM:243605
Cat-Eye Syndrome
Microphthalmia, Iris coloboma, Hydronephrosis ORPHA:195
Fucosidosis
Hepatomegaly, Corneal opacity, Cardiomegaly, Abnormality of the gallbladder, Mucopolysacchariduria ORPHA:349
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splenomegaly, Optic... ORPHA:579
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:255120
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... OMIM:228300
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalm... ORPHA:2556
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia ORPHA:75234
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Elevated circulating creatine kinase ... OMIM:610377
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Subcapsular cataract, Hypergonadotropic hypogonadism, Polycystic ovaries OMIM:268020
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron... OMIM:606003
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Peters an... OMIM:236670
Ichthyosis, X-Linked
Cryptorchidism, Testicular neoplasm, Opacification of the corneal stroma OMIM:308100
Classic Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, External genital hypoplasia, Precocious puberty, Cryptorc... OMIM:201000
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia ORPHA:69077
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Hyperphosphatemia, Hypercalcemia ORPHA:94086
Fructose Intolerance, Hereditary
Hepatomegaly, Hyperphosphaturia, Transient aminoaciduria, Jaundice, Bicarbonaturia, Proximal rena... OMIM:229600
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... ORPHA:42
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Lissencephaly 8
Microphthalmia, Cataract, Optic atrophy, Elevated circulating creatine kinase concentration OMIM:617255
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Polycystic ovaries ORPHA:79085
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy OMIM:619053
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... ORPHA:370959
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Cryptorchidism, Micropenis, Microphthalmia, Aortic valve stenosis, Iris co... OMIM:243310
Fish-Eye Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... OMIM:136120
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis, Hydroureter ORPHA:2547
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... OMIM:616589
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Ventricular septal defect, Hypospadias, Microcornea, Atrial septal defect, Microphthalm... OMIM:616449
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Gonadal dysgenesis, Abnormality of the ureter, Ventricular septal defect, Polycystic ovaries ORPHA:1770
Renal And Mullerian Duct Hypoplasia
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas... OMIM:266810
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, Atrial septal defect, Intrahepatic biliary dysgenesis,... OMIM:614866
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Pseudohypoparathyroidism Type 1B
Calcinosis, Cataract, Decreased response to growth hormone stimulation test, Pseudohypoparathyroi... ORPHA:94089
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Premature ventricular contraction ORPHA:1964
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... ORPHA:36412
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise... OMIM:201475
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Cataract, Micropht... ORPHA:85194
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Bardet-Biedl Syndrome 1
Decreased testicular size, Bone spicule pigmentation of the retina, Cataract, Biliary tract abnor... OMIM:209900
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... OMIM:264480
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Corneal opacity OMIM:166300
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Fowler Urethral Sphincter Dysfunction Syndrome
Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,... ORPHA:2795
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... OMIM:615181
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... ORPHA:435660
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis ORPHA:435651
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia, Ventricular septal defect OMIM:602501
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia OMIM:613327
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... ORPHA:829
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Uremic Pruritus
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... ORPHA:94059
Primary Fanconi Renotubular Syndrome
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... ORPHA:3337
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... ORPHA:1451
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Mucopolysaccharidosis Type 7
Corneal opacity, Splenomegaly, Hepatitis, Mucopolysacchariduria, Ascites ORPHA:584
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve ... ORPHA:371428
Wagro Syndrome
Cataract, Proteinuria, Corneal opacity, Aniridia, Hypoplastic female external genitalia, Decrease... OMIM:612469
Lig4 Syndrome
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... ORPHA:99812
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Renal insufficiency, Cataract, Elevated circulating creatine ... OMIM:608836
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... OMIM:615630
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Left ventricular diastolic dysfunction, ... ORPHA:57777
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Papillorenal Syndrome
Retinal detachment, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal cortico... OMIM:120330
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia OMIM:261750
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... OMIM:619750
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
Cardiomyopathy, Familial Hypertrophic, 4
Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degree atrioventricular bl... OMIM:115197
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia ORPHA:263455
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bicuspid aortic valve, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, ... ORPHA:1772
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hyperuricemia,... OMIM:604367
Hsd10 Disease, Infantile Type
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Abnormal concentration ... ORPHA:391428
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, J... OMIM:603553
Mucopolysaccharidosis Type 3
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... ORPHA:581
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Donohue Syndrome
Precocious puberty, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-cel... OMIM:246200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia, Retinal dysplasia OMIM:614830
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Nephrotic syndrom... OMIM:617713
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, R... OMIM:600901
Glycosylphosphatidylinositol Biosynthesis Defect 1
Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension OMIM:610293
Wilson Disease
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... OMIM:277900
Schimke Immuno-Osseous Dysplasia
Lymphopenia, Proteinuria, Corneal opacity, Minimal change glomerulonephritis, Thrombocytopenia, H... ORPHA:1830
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Schimmelpenning-Feuerstein-Mims Syndrome
Hyperphosphaturia, Corneal opacity, Precocious puberty, Horseshoe kidney, Hypophosphatemic rickets OMIM:163200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, As... OMIM:616897
Oculoskeletodental Syndrome
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalciuria, Developmental cataract... OMIM:618440
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Corneal opacity, Splen... ORPHA:93473
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Popliteal pterygium, Microphthalmia, Axillary pterygium OMIM:619339
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi... ORPHA:97289
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Retinal dysplasia OMIM:615771
Joubert Syndrome 22
Microphthalmia, Retinal dysplasia, Renal hypoplasia OMIM:615665
Axenfeld-Rieger Syndrome, Type 2
Hypospadias, Cryptorchidism, Abnormal heart morphology, Microcornea, Opacification of the corneal... OMIM:601499
Double Outlet Right Ventricle
Tachycardia, Heart murmur, Pulmonic stenosis ORPHA:3426
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Ventricular tachycardia, Prem... ORPHA:423
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis... ORPHA:251066
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Corneal opacity, Cataract, Cryptorchidism, Ocular albinism, Aplasia/Hypoplasia... ORPHA:2719
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Jaundice, Opacification of the corneal... OMIM:251290
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia OMIM:306000
Seckel Syndrome 2
Microphthalmia, Hypospadias, Ectopic kidney OMIM:606744
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di... OMIM:615895
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Hydro... ORPHA:79330
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Aborted sudden cardiac death, Pulmonar... OMIM:614921
Castleman Disease
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive... ORPHA:160
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased mean corpu... OMIM:194380
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph... OMIM:235255
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplas... OMIM:300755
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Cryptorchidism, Optic atrophy, Blue irides, Hyperphosphatemia, Hypogon... OMIM:101800
Carney Triad
Gastrointestinal hemorrhage, Hypertension, Tachycardia, Arrhythmia ORPHA:139411
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hyperammonemia ORPHA:664
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm OMIM:617883
Sjogren-Larsson Syndrome
Macular degeneration, Retinal pigment epithelial atrophy, Astigmatism, Opacification of the corne... OMIM:270200
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... ORPHA:466677
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La... OMIM:269700
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ... OMIM:615145
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Cardiomy... ORPHA:79086
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... ORPHA:405
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... ORPHA:99845
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia, Astigmatism, Cataract OMIM:619694
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, M... ORPHA:3191
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
H Syndrome
Hypertriglyceridemia, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Cornea... ORPHA:168569
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... ORPHA:99429
Fanconi Anemia, Complementation Group A
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, R... OMIM:227650
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... ORPHA:98850
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Trichothiodystrophy 3, Photosensitive
Cataract, Bilateral cryptorchidism, Abdominal adhesions, Developmental cataract, Neutropenia, Mic... OMIM:616395
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno... ORPHA:39041
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Heparan sulfate excretion in urin... OMIM:253220
Opsismodysplasia
Renal phosphate wasting, Hypophosphatemia OMIM:258480
Fraser Syndrome 1
Anophthalmia, Hypospadias, Corneal opacity, Cryptorchidism, Bilateral microphthalmos, Renal hypop... OMIM:219000
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Ambiguous genitalia, Corneal opacity, Vaginal neoplasm, Cataract, A... ORPHA:1052
Pseudohypoparathyroidism Type 1C
Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... ORPHA:79444
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Jaundice, Increased circulati... ORPHA:540
Bartsocas-Papas Syndrome
Ambiguous genitalia, Popliteal pterygium, Corneal opacity, Hypoplastic male external genitalia ORPHA:1234
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Microphthalmia, Iris ... ORPHA:231736
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Nephrol... OMIM:608594
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Oculofaciocardiodental Syndrome
Retinal detachment, Cataract, Ectopia lentis, Mitral valve prolapse, Microcornea, Abnormal cardia... ORPHA:2712
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... ORPHA:168558
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis OMIM:248700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Decreased circulating renin level, Premature thelarche, Renal salt wasting,... ORPHA:90795
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... ORPHA:324410
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogonadism, Ectopic kidney, Thromboc... OMIM:227645
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Microcornea, Clitoral hypo... OMIM:147791
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Atrial septal defect, M... ORPHA:2728
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Cataract, Retinal pigment epithel... OMIM:614105
Calciphylaxis
Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism ORPHA:280062
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy ORPHA:3386
Scrub Typhus
Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy ORPHA:83317
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Ventricular septal defect, Ante... OMIM:206900
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Retinal detachment, Optic disc pallor, Ventricular septal defect, Hypospadias, Unilateral renal a... ORPHA:464311
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism, Cataract OMIM:214150
Recessive X-Linked Ichthyosis
Cryptorchidism, Opacification of the corneal stroma ORPHA:461
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Increased circulating renin level, H... ORPHA:289548
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... ORPHA:85451
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia OMIM:618107
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Cataract, Ventricular septal defect, Eosinophilia, Corneal opacity, Pancrea... OMIM:274000
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a... OMIM:146255
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Raine Syndrome
Hydroureter, Hydronephrosis, Hypophosphatemia OMIM:259775
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Hypospadias, Cataract, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... OMIM:615877
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly OMIM:614473
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Meckel Syndrome, Type 4
Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthalmia OMIM:611134
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Cataract, Cryptorchidism, Optic disc coloboma, Microcornea, Microphthal... ORPHA:568
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Frontonasal Dysplasia 1
Microphthalmia, Tetralogy of Fallot, Cataract OMIM:136760
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Microphthalmia, Iri... OMIM:212550
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cataract, Portal hypertension, Thrombocytopenia, Cryp... OMIM:620005
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell morphology, Nephrotic syndrom... OMIM:215250
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, O... ORPHA:369891
Mucopolysaccharidosis Type 6
Splenomegaly, Mucopolysacchariduria, Abnormal heart valve morphology, Opacification of the cornea... ORPHA:583
Nephroblastoma
Hematuria, Neoplasm of the liver, Aniridia, Lymphadenopathy ORPHA:654
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Pseudohypoparathyroidism Type 1A
Calcinosis, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... ORPHA:79443
Sézary Syndrome
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell... ORPHA:47612
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... ORPHA:98973
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia, Optic atrophy ORPHA:1528
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia OMIM:614653
Cockayne Syndrome Type 3
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Retinal atrophy, Unilateral r... ORPHA:90324
Porphyria Variegata
Hypertension, Tachycardia ORPHA:79473
Meckel Syndrome 14
Hepatic fibrosis, Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous genitalia, Microp... OMIM:619879
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Galactosialidosis
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly OMIM:256540
Short Syndrome
Rieger anomaly, Cataract, Ovarian cyst, Astigmatism, Megalocornea OMIM:269880
Cryoglobulinemic Vasculitis
Hepatomegaly, Renal insufficiency, Viral hepatitis, Proteinuria, Splenomegaly, Mediastinal lympha... ORPHA:91138
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Renal insufficiency, Cataract, Prot... ORPHA:324
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Mixed Connective Tissue Disease
Hepatomegaly, Pericarditis, Hemolytic anemia, Splenomegaly, Myocarditis, Mediastinal lymphadenopa... ORPHA:809
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... OMIM:611490
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale OMIM:618914
Nance-Horan Syndrome
Microphthalmia, Retinal detachment, Cataract, Microcornea ORPHA:627
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy... ORPHA:2035
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Polycy... ORPHA:280365
Tetraamelia Syndrome 1
Cataract, Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia... OMIM:273395
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Dilated cardiomyopathy OMIM:618321
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal de... OMIM:214100
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism, Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Lymphangioleiomyomatosis
Abnormal urinary color, Abnormality of the lymphatic system, Optic atrophy, Abnormal morphology o... ORPHA:538
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Anophthalmia, Abnormalit... ORPHA:2538
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, A... OMIM:227646
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia ORPHA:348
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Anterior pi... ORPHA:464306
Renal Nutcracker Syndrome
Orthostatic hypotension, Syncope, Tachycardia ORPHA:71273
Hydrolethalus
Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Paget Disease Of Bone 5, Juvenile-Onset
Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Hypercalciuria, Hyperph... OMIM:239000
Pagod Syndrome
Multicystic kidney dysplasia, Situs inversus totalis, Abnormality of the spleen, Optic atrophy, A... ORPHA:991
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal d... OMIM:229850
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot,... ORPHA:3320
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo... ORPHA:217085
Vitreoretinochoroidopathy
Retinal detachment, Pulverulent cataract, Developmental cataract, Microcornea, Pigmentary retinop... OMIM:193220
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... OMIM:249000
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Pancre... ORPHA:464329
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
3Mc Syndrome 3
Bifid scrotum, Corneal opacity, Cryptorchidism, Horseshoe kidney, Micropenis, Penoscrotal hypospa... OMIM:248340
Proboscis Lateralis
Anophthalmia, Ventricular septal defect, External genital hypoplasia, Unilateral renal agenesis, ... ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Dilated cardiom... OMIM:253800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Neuroleptic Malignant Syndrome
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... ORPHA:94093
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Vesicoureteral reflux, Atrial ... ORPHA:567
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly OMIM:618838
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Sclerocornea, Cryptorchidism, Pigmentary retinopathy, Microphthalmia, Micropenis OMIM:614230
Glycogen Storage Disease Ixc
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... OMIM:613027
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Trisomy 18
Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Cryptorchidism, Microco... ORPHA:3380
Okamoto Syndrome
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus... ORPHA:2729
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Ophthalmomandibulomelic Dysplasia
Megalocornea, Corneal opacity ORPHA:2741
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, Abnormal pulmo... ORPHA:217093
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Phthisis bulbi, Developmental cataract, Microcornea, ... OMIM:612109
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... OMIM:610199
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Polycystic ovaries ORPHA:284180
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... OMIM:232300
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating copper concentration, Glandular hypospadias, Abnormal circulating ceruloplas... OMIM:620306
Mucopolysaccharidosis Type 2
Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, ... ORPHA:580
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinos... OMIM:617913
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Martsolf Syndrome 1
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Developmental cataract, Cardiomyopathy, ... OMIM:212720
Mosaic Trisomy 1
Hepatic agenesis, Ventricular septal defect, Renal cortical cysts, Renal cyst, Opacification of t... ORPHA:1692
Oculocerebrocutaneous Syndrome
Cryptorchidism, Corneal opacity, Iris coloboma ORPHA:1647
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Cowden Syndrome 1
Cataract, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Lymphopenia, Varicocele, Goiter OMIM:158350
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Familial Dysautonomia
Abnormal peritoneum morphology, Hyponatremia, Renal insufficiency, Corneal opacity, Abnormal pupi... ORPHA:1764
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Mitral valve calcification, Pancytopenia, Corneal opacity, Splenomegaly, Aortic valv... ORPHA:2072
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion... OMIM:253010
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... ORPHA:79102
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Cockayne Syndrome
Urinary incontinence, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy, Cryptorch... ORPHA:191
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... OMIM:601847
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Ventricular septal defect, Corneal opacity, Ectopia lentis, Horsesh... ORPHA:2092
Cat Eye Syndrome
Ventricular septal defect, Biliary atresia, Vesicoureteral reflux, Horseshoe kidney, Hypoplastic ... OMIM:115470
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Temtamy Syndrome
Microphthalmia, Iris coloboma ORPHA:1777
Digeorge Syndrome
Renal insufficiency, Posterior embryotoxon, Ventricular septal defect, Parathyroid agenesis, Unil... OMIM:188400
Pseudopseudohypoparathyroidism
Hyperphosphatemia, Hypocalcemia ORPHA:79445
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Optic nerve hypoplasia, Corneal dystrophy, Corneal opacity, Cryptorchidism, Hypoplas... ORPHA:495875
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ... ORPHA:781
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Corneal opacity ORPHA:1794
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Macular atrophy,... OMIM:619418
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Hypersplenism, Throm... ORPHA:77259
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Abnormal heart morphology, Astigmatism, Retinal coloboma, Microphthalmia OMIM:618571
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev... OMIM:154230
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... ORPHA:355
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Cataract, Optic atrophy, Microcytic anemia OMIM:612379
Eisenmenger Syndrome
Left-to-right shunt, Tricuspid regurgitation, Atrial fibrillation, Angina pectoris, Right ventric... ORPHA:97214
Sandestig-Stefanova Syndrome
Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect, Dev... OMIM:618804
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, Macular atrophy, Ectopia p... ORPHA:85167
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... OMIM:618048
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk... ORPHA:32960
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis ORPHA:1064
Holoprosencephaly
Hyponatremia, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary va... ORPHA:2162
Pierson Syndrome
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ... OMIM:609049
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Corneal opacity, Bilateral microphthalmos, Microphthalmia, Conjunctival hyperemia ORPHA:2399
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
1Q21.1 Microdeletion Syndrome
Cataract, Cryptorchidism, Abnormal cardiac septum morphology, Vesicoureteral reflux, Microphthalm... ORPHA:250989
Graft Versus Host Disease
Tachycardia ORPHA:39812
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Elevated circulating creatine kinase concentration, Abnormally large globe, Microphthal... OMIM:615249
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Adams-Oliver Syndrome
Cataract, Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, ... ORPHA:974
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Poems Syndrome
Papilledema, Pericardial effusion, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycy... ORPHA:2905
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension... ORPHA:340
Fanconi Anemia
Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia... ORPHA:84
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Ventricular septal defect, Pigmentary retinopathy, Axenfeld anomaly, Opaci... OMIM:612582
Brachyolmia Type 1, Toledo Type
Increased urinary disaccharide excretion, Opacification of the corneal stroma OMIM:271630
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Cryptorchidism, Small scrotum, Hypogonadism ORPHA:228390
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
3Q29 Microdeletion Syndrome
Cataract, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis, Microphthalmia ORPHA:65286
Chops Syndrome
Cataract, Ventricular septal defect, Splenomegaly, Cryptorchidism, Optic atrophy, Anomalous pulmo... OMIM:616368
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis OMIM:617877
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Conjunctivit... OMIM:617591
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati... ORPHA:167
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Developmental cataract, Microcornea, Male urethral meatus... ORPHA:464738
Cowden Syndrome 6
Cataract, Hydrocele testis, Ovarian cyst, Varicocele, Goiter OMIM:615109
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... OMIM:614083
Lathosterolosis
Cataract, Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Intrahepatic chol... OMIM:607330
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism, Atrioventricular canal defect OMIM:619135
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pulmonic stenosis, Left ve... OMIM:619148
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat... OMIM:619991
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos... OMIM:300908
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia ORPHA:1806
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Septate v... OMIM:300166
Boutonneuse Fever
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia ORPHA:83313
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Ventricular septal defect, Decreased response to growth hormone stimulation t... ORPHA:488632
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Retinal detachment, Cataract, Oligosacchariduria ORPHA:163649
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N... ORPHA:93552
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicular size OMIM:201100
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ... OMIM:175200
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Cohen Syndrome
Abnormality of retinal pigmentation, Ventricular septal defect, Cryptorchidism, Optic atrophy, Mi... ORPHA:193
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right atrial enlargement, Pulmonic stenosis,... OMIM:616028
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormal heart morphology, Abnorma... ORPHA:42775
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
3Q29 Microduplication Syndrome
Cataract, Ventricular septal defect, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Thrombocytopenia, Aorti... OMIM:230800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Mitral regurgitation, Pulmonary a... ORPHA:505248
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... OMIM:210250
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma ORPHA:2791
Cowden Syndrome 5
Hydrocele testis, Ovarian cyst, Cataract, Goiter OMIM:615108
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Renal cyst OMIM:617100
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia OMIM:234050
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... OMIM:607765
Hyper-Igd Syndrome
Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Hepatosplenomegaly, L... OMIM:260920
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, Iris coloboma OMIM:618874
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Abnormal anterior eye segment morphology, Exudative retinal detachment ORPHA:209956
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Remnants of the hyaloid vascular system, Corn... ORPHA:649
Duane-Radial Ray Syndrome
Cataract, Ventricular septal defect, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplas... OMIM:607323
Familial Mediterranean Fever
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis... ORPHA:342
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Beckwith-Wiedemann Syndrome
Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cardiomegaly, Cryptorchidism, Pan... OMIM:130650
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Optic atrophy, Deve... OMIM:133540
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... ORPHA:99827
Schimke Immunoosseous Dysplasia
Renal insufficiency, Pancytopenia, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Stage... OMIM:242900
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Bartsocas-Papas Syndrome 1
Pterygium, Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia... OMIM:263650
Mosaic Trisomy 8
Decreased testicular size, Corneal opacity, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis ORPHA:96061
Pigmented Nodular Adrenocortical Disease, Primary, 2
Ovarian cyst, Pancreatitis OMIM:610475
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Hypospadias, Optic nerve hy... ORPHA:508498
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo... OMIM:617666
Bangstad Syndrome
Abnormality of the parathyroid gland, Abnormal testis morphology, Polycystic ovaries ORPHA:1227
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia OMIM:608013
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Autosomal Dominant Hypocalcemia
Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia,... ORPHA:428
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... ORPHA:98974
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension OMIM:263800
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ... ORPHA:98813
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Conjunctivitis, Corneal opacity OMIM:602562
Mucolipidosis Iii Gamma
Aortic valve stenosis, Increased serum beta-hexosaminidase, Opacification of the corneal stroma OMIM:252605
Meckel Syndrome 12
Ureteral hypoplasia, Antecubital pterygium, Renal hypoplasia, Hypoplasia of the uterus, Vaginal a... OMIM:616258
Incontinentia Pigmenti
Retinal detachment, Cataract, Corneal opacity, Eosinophilia, Supernumerary nipple, Keratitis, Ret... ORPHA:464
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco... OMIM:619259
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Chronic neutropenia, Hyperlipidemia, Stage 5 chr... ORPHA:79259
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Frontofacionasal Dysplasia
Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris coloboma ORPHA:1791
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:611561
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Syndromic Diarrhea
Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Incr... ORPHA:84064
Adams-Oliver Syndrome 2
Microphthalmia, Optic atrophy, Developmental cataract OMIM:614219
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia OMIM:235555
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Biliary tract abnormality, Renal hypoplasia,... OMIM:137920
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Abnormal heart valve morphology, Optic nerve hypoplasia, Corneal opacit... ORPHA:536471
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased testicular size, Hydroureter, Ventricular septal defect, Decreased ... OMIM:146510
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... OMIM:276700
Autosomal Recessive Cutis Laxa Type 2A
Abnormal cornea morphology, Corneal opacity ORPHA:357058
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism, Ventricular septal defect, Supernumerary nipple OMIM:612530
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Hypospadias, Corneal opacity, Crypt... ORPHA:709
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:611881
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine, Cardiomyopathy,... OMIM:253200
Abetalipoproteinemia
Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation, Decreased HDL cholesterol con... ORPHA:14
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Elevated circulating C-reactive pr... ORPHA:1304
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Parathyroid hyperplasia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Hydrolethalus Syndrome 1
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... OMIM:236680
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Splenomegal... OMIM:222470
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... OMIM:251880
Temtamy Syndrome
Microphthalmia, Ectopia lentis, Iris coloboma, Lens luxation OMIM:218340
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Cataract, Ventricular septal defect, Hypospadias, Enlarged labia minora, Cornea... OMIM:268300
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Chromosome 17Q12 Deletion Syndrome
Multicystic kidney dysplasia, Unilateral renal agenesis, Cryptorchidism, Urethral stenosis, Urete... OMIM:614527
Rodrigues Blindness
Microcornea, Microphthalmia, Sclerocornea OMIM:268320
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Polycystic ovaries ORPHA:2176
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Limbal dermoid, Ve... ORPHA:857
Mirizzi Syndrome
Tachycardia ORPHA:521219
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph... ORPHA:29073
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... ORPHA:79126
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Tortuosity of ... OMIM:230000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... OMIM:612541
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipi... OMIM:232220
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hypomagnesemia, Hepatitis... ORPHA:37042
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, Cataract, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Fanconi Anemia, Complementation Group R
Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia OMIM:617244
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Acute Intermittent Porphyria
Hypertension, Tachycardia ORPHA:79276
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hepatomegaly, Hemolytic anemia, Cataract, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, ... OMIM:608885
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Cataract, Intrahepatic cholestasis, Anisopoikilocytosis, Abnor... ORPHA:46059
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia, Peters anomaly OMIM:614526
Pelvis-Shoulder Dysplasia
Microphthalmia, Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Multicystic kidney dysplasia, Hypoplasia of penis, Ventricula... ORPHA:818
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level, Microcornea OMIM:110100
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Eosinophilia, Supernumerary nipple, Kerati... OMIM:308300
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Cataract, Abnormal optic disc morphology, Retinal neovasculari... ORPHA:891
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... ORPHA:289176
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... OMIM:615688
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Microcornea, Retinal coloboma, Ambiguous genitalia, Iris coloboma, Hydr... ORPHA:2839
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubulointerstitial ne... ORPHA:139402
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Lumbar Syndrome
Bifid scrotum, Ambiguous genitalia, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia ... ORPHA:83628
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph... OMIM:304790
Mietens Syndrome
Microcornea, Cataract, Corneal opacity, Sclerocornea ORPHA:2557
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, R... ORPHA:33226
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:151660
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegal... ORPHA:309282
Xeroderma Pigmentosum, Complementation Group B
Cataract, Optic atrophy, Pigmentary retinopathy, Hypogonadism, Microphthalmia OMIM:610651
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Ring Chromosome 10 Syndrome
Microphthalmia, Hypocalcemia ORPHA:1438
Joubert Syndrome 14
Microphthalmia, Optic atrophy, Ventricular septal defect, Renal cyst OMIM:614424
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Conjunctivitis, Conjunctival hyperemia OMIM:142680
Mucopolysaccharidosis Type 4
Mucopolysacchariduria, Abnormal heart valve morphology, Corneal opacity ORPHA:582
De Barsy Syndrome
Cryptorchidism, Cataract, Ventricular septal defect, Corneal opacity ORPHA:2962
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, El... OMIM:614643
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... OMIM:615113
Papa Syndrome
Proteinuria, Lymphadenopathy ORPHA:69126
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity ORPHA:578
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation, Renal cyst OMIM:603194
Phace Association
Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Developmental cataract, Microph... OMIM:606519
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Dilated cardiomyopa... ORPHA:98855
Hypoplasminogenemia
Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Abnormal fallopian tube morphology, ... ORPHA:722
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Steinfeld Syndrome
Absent gallbladder, Abnormal heart morphology, Retinal coloboma, Microphthalmia, Iris coloboma OMIM:184705
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Shallow anterior chamber, Retinal neovascularization OMIM:305390
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Parotitis, Elevated ... OMIM:256040
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... OMIM:252500
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of... ORPHA:3109
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Exstrophy-Epispadias Complex
Bifid scrotum, Renal insufficiency, Urinary incontinence, Bifid uterus, Epispadias, Penoscrotal t... ORPHA:322
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Polycythe... ORPHA:116
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Tatton-Brown-Rahman Syndrome
Mitral regurgitation, Tricuspid regurgitation, Supraventricular tachycardia with an accessory con... ORPHA:404443
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Thrombocytopenia, Supravalvar pulmonary stenosis, Develo... OMIM:620185
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Hypophosphatemia ORPHA:89936
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Unilateral renal agenesis, Developmental cataract OMIM:616603
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria, Corneal opacity ORPHA:1765
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Optic disc coloboma, Hydrocele testis, Hypoplastic nipples,... OMIM:620186
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic... OMIM:617925
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... ORPHA:3427
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Trichothiodystrophy
Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular h... ORPHA:33364
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Cryptorchidism, Optic atrophy, Renal cyst, Peters anomaly... OMIM:616975
Basal Cell Nevus Syndrome 1
Ovarian fibroma, Cataract, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmi... OMIM:109400
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Chime Syndrome
Ventricular septal defect, Corneal opacity, Tetralogy of Fallot, Acute leukemia, Retinal coloboma... ORPHA:3474
Hennekam Syndrome
Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors... ORPHA:2136
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of pineal gland OMIM:614402
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cataract, Cryptorchidism, Hypoplasia of the thymus, Rectovagi... ORPHA:861
Sarcoidosis
Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hepatomegaly,... ORPHA:797
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Yunis-Varon Syndrome
Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, Cryptorchidism, Bil... ORPHA:3472
Vacterl With Hydrocephalus
Anophthalmia, Cryptorchidism, Microcornea, Abnormal fallopian tube morphology, Microphthalmia ORPHA:3412
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Premature ventricular contraction OMIM:617072
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy ORPHA:343
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Acro-Renal-Ocular Syndrome
Cataract, Optic disc hypoplasia, Optic disc coloboma, Horseshoe kidney, Microcornea, Bladder dive... ORPHA:959
Joubert Syndrome 2
Renal insufficiency, Optic disc coloboma, Renal cyst, Nephronophthisis, Hypoplastic male external... OMIM:608091
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:308552
Perrault Syndrome 4
Hypoplasia of the uterus, Increased circulating gonadotropin level, Bicornuate uterus, Hypoplasia... OMIM:615300
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Atrioventricular bl... ORPHA:98863
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Hypoplasi... OMIM:251300
Coccidioidomycosis
Renal insufficiency, Pericarditis, Abnormal sperm morphology, Eosinophilia, Mediastinal lymphaden... ORPHA:228123
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C cell hyperplasi... ORPHA:653
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fora... OMIM:619488
Isolated Biliary Atresia
Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbil... ORPHA:30391
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Conjugated hyperb... ORPHA:567983
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Retinal atrophy, Proteinuria, Cataract, Splenomegaly, Cryptorc... OMIM:216400
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Iris coloboma, Cryptorchidism, Optic ... ORPHA:138
Stevenson-Carey Syndrome
Atrial septal defect, Microphthalmia OMIM:611961
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Ambiguous g... ORPHA:2166
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... OMIM:301068
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... ORPHA:309854
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Mend Syndrome
Cataract, Cryptorchidism, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Abnormal hear... ORPHA:401973
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Pancreatoblastoma
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... ORPHA:677
Luscan-Lumish Syndrome
Polycystic ovaries OMIM:616831
Cousin Syndrome
Ambiguous genitalia, female, Microcornea, Ambiguous genitalia, male, Microphthalmia, Hydronephrosis OMIM:260660
2Q31.1 Microdeletion Syndrome
Ventricular septal defect, Cryptorchidism, Optic disc coloboma, Atrial septal defect, Microphthal... ORPHA:251014
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Keratoconjunctivitis sicca, Hypogonadism, Microphthalmia OMIM:601675
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... ORPHA:96191
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... ORPHA:98962
Developmental And Epileptic Encephalopathy 95
Cryptorchidism, Hepatomegaly, Cardiomegaly OMIM:618143
Satoyoshi Syndrome
Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Developmental glaucoma, Mitral valve... OMIM:245600
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Microphthalmia, Cataract, Iris transillumination defect OMIM:617306
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Behçet Disease
Pericarditis, Renal insufficiency, Cataract, Orchitis, Splenomegaly, Endocarditis, Lymphadenopath... ORPHA:117
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Wolf-Hirschhorn Syndrome
Abnormal heart valve morphology, Hypospadias, Sclerocornea, Cryptorchidism, Abnormality of the ga... ORPHA:280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hyponatremia, Clitoral hypertrophy, Hypogonadotropic hypogonadism, Abnormal e... ORPHA:90794
Congenital Disorder Of Deglycosylation 1
Hyperalaninemia, Hepatomegaly, Corneal opacity, Elevated circulating alpha-fetoprotein concentrat... OMIM:615273
3P25.3 Microdeletion Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis ORPHA:435638
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Cryptorchidism, Acute lymphoblastic leukemia, Hypoplasia of the iri... OMIM:223370
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal p... ORPHA:449432
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... OMIM:616084
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Orofaciodigital Syndrome I
Proteinuria, Pancreatic cysts, Abnormal heart morphology, Ovarian cyst, Hepatic fibrosis, Polycys... OMIM:311200
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia... ORPHA:520
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ablepharon Macrostomia Syndrome
Hypoplasia of penis, Corneal opacity, Corneal erosion, Ambiguous genitalia, Abnormality of female... ORPHA:920
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Abnormal thymus morphology, Cardiomegaly ORPHA:2463
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... ORPHA:99826
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... ORPHA:514
Oeis Complex
Hydroureter, Bifid uterus, Epispadias, Vesicovaginal fistula, Ambiguous genitalia, female, Crypto... OMIM:258040
X-Linked Dominant Chondrodysplasia Punctata
Microcornea, Microphthalmia, Cataract, Hydronephrosis ORPHA:35173
Porphyria, Congenital Erythropoietic
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Corneal scarring, Conjunctivit... OMIM:263700
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Unilateral renal agenesis, Hypo... OMIM:618419
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology, El... ORPHA:97287
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic left heart, P... OMIM:100300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... ORPHA:268
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Hereditary Orotic Aciduria
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,... ORPHA:30
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Malakoplakia
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg... ORPHA:556
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology, Ocular albinism ORPHA:1352
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100080
Aicardi-Goutières Syndrome
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Developmental glaucoma, Hepatosplenomegaly, M... ORPHA:51
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma OMIM:614594
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Abnormal heart valve morphology, Opacification of the corneal stroma, Chondroitin s... OMIM:253000
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Carney Complex
Neoplasm of the pancreas, Ovarian dermoid cyst, Sertoli cell neoplasm, Euthyroid multinodular goi... ORPHA:1359
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect OMIM:616920
Larsen Syndrome
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Corneal opacity OMIM:150250
Chromosome 13Q14 Deletion Syndrome
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Pate... OMIM:613884
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Microphthalmia, Hypoplastic nipples OMIM:156610
Al-Gazali Syndrome
Corneal opacity, Hydronephrosis, Sclerocornea OMIM:609465
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma, Cardiac fibroma, Cataract ORPHA:77301
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Conjunctival hyperemia OMIM:167730
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... OMIM:175780
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Acute Generalized Exanthematous Pustulosis
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Conj... ORPHA:293173
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypospadias, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplastic labia majora, M... OMIM:603457
Melkersson-Rosenthal Syndrome
Lymphadenopathy, Oligosacchariduria ORPHA:2483
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Premature Aging Syndrome, Penttinen Type
Corneal stromal edema, Microphthalmia, Corneal opacity OMIM:601812
Oculoectodermal Syndrome
Supernumerary nipple, Limbal dermoid, Pineal cyst, Microcornea, Astigmatism, Opacification of the... OMIM:600268
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Primary Sjögren Syndrome
Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Glomerulonephritis, ... ORPHA:289390
Curry-Jones Syndrome
Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
Multicentric Osteolysis, Nodulosis, And Arthropathy
Peripheral opacification of the cornea, Corneal opacity, Mitral valve prolapse OMIM:259600
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hemolytic anemia, Lymphopenia, Autoim... OMIM:619573
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Microphthalmia, Hydronephrosis OMIM:302960
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Microphthalmia OMIM:618727
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Elevated circulating creatine kinas... OMIM:309000
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions, Microp... OMIM:153400
Gomez-Lopez-Hernandez Syndrome
Decreased response to growth hormone stimulation test, Opacification of the corneal stroma OMIM:601853
Rothmund-Thomson Syndrome, Type 2
Cataract, Cryptorchidism, Microcornea, Hypogonadism, Microphthalmia, Annular pancreas, Zonular ca... OMIM:268400
Ogden Syndrome
Ventricular tachycardia, Premature ventricular contraction, Torsade de pointes, Supraventricular ... OMIM:300855
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Moebius Syndrome
Breast aplasia, Hypogonadotropic hypogonadism, Corneal opacity ORPHA:570
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Antecubital pterygium, Horseshoe kidney, Popliteal pt... OMIM:609945
Monosomy 18P
Microphthalmia ORPHA:1598
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila... OMIM:620233
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Ventricular septal defect, Hypospadias, Precocious puberty, Cry... OMIM:194190
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Microphthalmia ORPHA:2714
Renpenning Syndrome 1
Cataract, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypopla... OMIM:309500
Mucoepithelial Dysplasia, Hereditary
Cataract, Eosinophilia, Cor pulmonale, Keratoconjunctivitis, Hematuria, Opacification of the corn... OMIM:158310
Bohring-Opitz Syndrome
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retenti... ORPHA:97297
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal heart morphology OMIM:610758
Nance-Horan Syndrome
Microcornea, Microphthalmia, Posterior Y-sutural cataract, Developmental cataract OMIM:302350
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia, Supernumerary nipple OMIM:620098
Wiedemann-Rautenstrauch Syndrome
Cataract, Hypospadias, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimul... ORPHA:3455
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Hyponatremia, Small scrotum, Hypospadias, Cryptorchidism, Hype... OMIM:201750
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va... OMIM:617088
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... OMIM:617099
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia OMIM:616300
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Blau Syndrome
Pericarditis, Cataract, Keratitis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy,... ORPHA:90340
Roberts Syndrome
Clitoral hypertrophy, Cataract, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Micropht... ORPHA:3103
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
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal... ORPHA:449563
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... OMIM:271520
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Opacification of the corneal stroma, Cataract ORPHA:3453
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia, Cataract, Elevated circulating creatine kinase concentration OMIM:616538
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Fraser Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anophthalmia, Cryp... ORPHA:2052
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Precocious puberty, Cryptorchidis... ORPHA:636
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... OMIM:613150
Frontorhiny
Microphthalmia, Hypopituitarism, Cataract, Iris coloboma ORPHA:391474
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... ORPHA:565612
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Ovarian neoplasm, Adreno... ORPHA:100079
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia, Unilateral renal agenesis ORPHA:457284
Kindler Epidermolysis Bullosa
Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis, Anemia ORPHA:2908
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Aortic valve sten... OMIM:272950
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Oculodentodigital Dysplasia, Autosomal Recessive
Microcornea, Microphthalmia, Cataract, Persistent pupillary membrane OMIM:257850
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Corneal neovascu... OMIM:278730
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... OMIM:181000
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, ... ORPHA:261552
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... ORPHA:90041
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, R... ORPHA:2526
Hallermann-Streiff Syndrome
Cataract, Cryptorchidism, Optic disc coloboma, Microphthalmia, Iris coloboma OMIM:234100
Limb Body Wall Complex
Ventricular septal defect, Corneal opacity, Abnormal heart morphology, Abnormality of the liver, ... ORPHA:2369
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Corneal opacity ORPHA:364577
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect, Iris coloboma, Ectopic kidney ORPHA:268249
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hemolytic anemia, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ... OMIM:615846
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Congestive he... OMIM:620066
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... ORPHA:284339
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atriove... ORPHA:672
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb... ORPHA:261537
Johanson-Blizzard Syndrome
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ... OMIM:243800
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s... ORPHA:100078
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... ORPHA:3260
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, Cellular urinary casts, Jaundice, Hepatitis, Retinal hem... ORPHA:509
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:617729
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchi... OMIM:235730
Ophthalmomandibulomelic Dysplasia
Megalocornea, Opacification of the corneal stroma OMIM:164900
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy, Corneal opacity OMIM:608670
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... ORPHA:77293
Mucolipidosis Iii Alpha/Beta
Opacification of the corneal stroma, Hyperopic astigmatism, Increased serum beta-hexosaminidase, ... OMIM:252600
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Cervical lymphadenopathy... ORPHA:2331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... OMIM:253280
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... ORPHA:79078
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... ORPHA:466650
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Aicardi Syndrome
Retinal detachment, Cataract, Precocious puberty, Optic disc coloboma, Optic atrophy, Hepatoblast... OMIM:304050
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Precocious puberty, Optic disc coloboma,... ORPHA:50
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Female hypogonadism, Cornea... ORPHA:740
Limb-Mammary Syndrome
Absent nipple, Chronic irritative conjunctivitis, Bilateral breast hypoplasia, Breast aplasia, Hy... ORPHA:69085
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitat... ORPHA:254892
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Keratitis, Lymphadenit... ORPHA:331235
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Fontaine Progeroid Syndrome
Atrial septal defect, Small scrotum, Bicuspid aortic valve, Absent nipple, Cryptorchidism, Abnorm... OMIM:612289
Oculodentodigital Dysplasia
Neurogenic bladder, Cataract, Microcornea, Atrial septal defect, Microphthalmia OMIM:164200
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... OMIM:256800
Skin Creases, Congenital Symmetric Circumferential, 2
Small scrotum, Hypospadias, Cryptorchidism, Microcornea, Ureterocele, Microphthalmia OMIM:616734
Mowat-Wilson Syndrome
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb... ORPHA:2152
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:99228
Monosomy X
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, High urinary gonadotropin level, Ectopic kidney, Increased circulating gon... ORPHA:881
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Keratitis, Cryptorchidism, Optic atrophy, Aminoaciduria, H... ORPHA:910
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Neu-Laxova Syndrome 1
Cataract, Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great art... OMIM:256520
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo... OMIM:607944
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot, Iris coloboma ORPHA:3186
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia, Iris coloboma, Supernumerary nipple ORPHA:1236
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Myhre Syndrome
Cataract, Ventricular septal defect, Pericardial effusion, Cryptorchidism, Atrial septal defect, ... OMIM:139210
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism, Abdominal situs inversus, Developmental cataract ORPHA:2108
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Corneal opacity, Iris coloboma, Tricuspid valve prolapse ORPHA:2396
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Opacification of the corneal stroma, Cardiomegaly ORPHA:79280
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia, Anemia ORPHA:79396
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea, Vesicoureteral reflux, Double inlet left ventricle, At... OMIM:619869
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Ventricular septal defect, Phthisis bulbi, Retinal calcification, Absent ... OMIM:259770
Focal Dermal Hypoplasia
Ureteral duplication, Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Optic a... OMIM:305600
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Coffin-Siris Syndrome 1
Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Cryptorchidism, Renal hypopl... OMIM:135900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Optic nerve dys... OMIM:615287
Townes-Brocks Syndrome 1
Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo... OMIM:107480
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Corneal opacity, Keratitis, Cryptorchidism, Corneal erosion, Astigmatism, Conjunctiv... ORPHA:2273
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v... ORPHA:100075
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... ORPHA:365
African Trypanosomiasis
Hepatomegaly, Pericarditis, Renal insufficiency, Papilledema, Urinary incontinence, Keratitis, My... ORPHA:3385
Gorlin-Chaudhry-Moss Syndrome
Astigmatism, Sclerocornea ORPHA:2095
Dyggve-Melchior-Clausen Disease
Corneal opacity ORPHA:239
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Alström Syndrome
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... ORPHA:64
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... ORPHA:1677
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Cataract, Supernumerary nipple, Cryptorchidism, Renal cyst, Retinal co... OMIM:113620
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine ru... OMIM:130050
Microphthalmia With Limb Anomalies
Cryptorchidism, Optic atrophy, Horseshoe kidney, Microphthalmia, True anophthalmia ORPHA:1106
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Autosomal Dominant Cutis Laxa
Corneal opacity, Unilateral renal agenesis, Dilatation of the ventricular cavity, Pyelonephritis,... ORPHA:90348
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism... ORPHA:468631
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly ORPHA:91387
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Monosomy 9P
Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction ORPHA:261112
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Retinal hemorrhag... ORPHA:51608
Osteogenesis Imperfecta
Abnormal endocardium morphology, Corneal opacity, Hypercalciuria, Nephrolithiasis, Mitral valve p... ORPHA:666
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Anophthalmia, Sclerocornea, Cryptorchidism, Renal hypoplasia,... OMIM:607932
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Steinert Myotonic Dystrophy
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... ORPHA:273
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus ORPHA:1521
Scalp-Ear-Nipple Syndrome
Supraventricular tachycardia, Hypertension, Congestive heart failure OMIM:181270
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal ... ORPHA:508488
Peters-Plus Syndrome
Ureteral duplication, Hypoplasia of the vagina, Cataract, Hypospadias, Ventricular septal defect,... OMIM:261540
Cherubism
Macular scar, Optic neuropathy, Submandibular lymph node enlargement OMIM:118400
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Keratoconjunctivitis, Opacification of the corneal stroma, Abnormal p... ORPHA:2907
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Linear Nevus Sebaceus Syndrome
Microphthalmia, Adenoma sebaceum, Iris coloboma ORPHA:2612
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, V... ORPHA:91347
Apolipoprotein A-I Deficiency
Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... ORPHA:425
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph... OMIM:154500
Acrofrontofacionasal Dysostosis 1
Microphthalmia, Iris atrophy, Optic atrophy OMIM:201180
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Microphthalmia, Iris coloboma, Anterior pituitary agenes... OMIM:157170
Holoprosencephaly 1
Microphthalmia, Micropenis, Single ventricle OMIM:236100
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T... ORPHA:536
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblasto... ORPHA:99889
Microphthalmia, Syndromic 1
Hydroureter, Bicuspid aortic valve, Hypospadias, Anophthalmia, Cryptorchidism, Optic disc colobom... OMIM:309800
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Cataract, Bicuspid aortic valve, Sutural cataract, Muscular ventricular septal defect, Nuclear pu... OMIM:612474
Vascular Ehlers-Danlos Syndrome
Keratoconus, Hypospadias, Abnormal heart valve morphology, Cryptorchidism, Abnormal pupil morphol... ORPHA:286
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Congenital Total Pulmonary Venous Return Anomaly
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... ORPHA:99125
Curry-Jones Syndrome
Microphthalmia, Iris coloboma OMIM:601707
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Witteveen-Kolk Syndrome
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorc... OMIM:613406
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Keratitis, Cryptorchidism, ... OMIM:308205
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos, Panhypopituitarism, Iris coloboma OMIM:610828
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Tetralogy of Fallot, Cataract ORPHA:306542
Frontofacionasal Dysplasia
Microcornea, Microphthalmia, Cataract, Iris coloboma OMIM:229400
Van Den Ende-Gupta Syndrome
Sclerocornea OMIM:600920
Full Nf2-Related Schwannomatosis
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract ORPHA:637
Dermochondrocorneal Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract OMIM:221800
Stuve-Wiedemann Syndrome 1
Opacification of the corneal stroma OMIM:601559
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Hypertension, Premature ventricular contraction OMIM:602535
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Monosomy 13Q14
Microphthalmia, Cataract, Iris coloboma ORPHA:1587
Legius Syndrome
Paroxysmal atrial tachycardia, Pulmonic stenosis ORPHA:137605
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Hypospadias, Cataract, Sclerocornea, Cryptorchidism, Ca... OMIM:216340
Pallister-Killian Syndrome
Small scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cataract, Cryptorchi... OMIM:601803
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Isolated Arrhinia
Microphthalmia ORPHA:1134
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Ectopic kidney, Limbal der... OMIM:164210
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... 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 Fsd2em1(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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Fsd2tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Fsd2em1(IMPC)Mbp Exon Deletion Mice, Tissue
Fsd2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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