Gene Summary

Name:
E2F transcription factor 3
Synonyms:
E2f3a,  E2F3b

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
corneal opacity E2f3tm1b(KOMP)Wtsi HET   Late adult 7.75×10-05
no spontaneous movement E2f3tm1b(KOMP)Wtsi HOM E18.5 0.00
preweaning lethality, complete penetrance E2f3tm1b(KOMP)Wtsi HOM   Early adult 0.00
increased total body fat amount E2f3tm1b(KOMP)Wtsi HET   Late adult 1.65×10-05
increased startle reflex E2f3tm1b(KOMP)Wtsi HET Late adult 8.16×10-05
abnormal lens morphology E2f3tm1b(KOMP)Wtsi HET   Late adult 6.09×10-05
abnormal jejunum morphology E2f3tm1b(KOMP)Wtsi HET Late adult 0.00
abnormal snout morphology E2f3tm1b(KOMP)Wtsi HET   Early adult 5.95×10-06
impaired glucose tolerance E2f3tm1b(KOMP)Wtsi HET Early adult 8.50×10-05
no spontaneous movement E2f3tm1b(KOMP)Wtsi HET E18.5 0.00
abnormal embryo size E2f3tm1b(KOMP)Wtsi HOM E18.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Heart atrium N/A heterozygote Ambiguous
Axial skeleton N/A heterozygote Ambiguous
Brain N/A heterozygote Ambiguous
Central nervous system ganglion N/A heterozygote Ambiguous
Cranium N/A heterozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote Ambiguous
Embryo N/A heterozygote Ambiguous
Outer ear N/A heterozygote Ambiguous
Eye N/A heterozygote Ambiguous
Femur pre-cartilage condensation N/A heterozygote Ambiguous
Footplate N/A heterozygote Ambiguous
Forearm N/A heterozygote Ambiguous
Forebrain N/A heterozygote Ambiguous
Forelimb N/A heterozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Gut N/A heterozygote Ambiguous
Handplate N/A heterozygote Ambiguous
Head mesenchyme N/A heterozygote Ambiguous
Head N/A heterozygote Ambiguous
Heart ventricle N/A heterozygote Ambiguous
Heart N/A heterozygote Ambiguous
Hindbrain N/A heterozygote Ambiguous
Hindlimb N/A heterozygote Ambiguous
Humerus pre-cartilage condensation N/A heterozygote Ambiguous
Inner ear N/A heterozygote Ambiguous
Intestine N/A heterozygote Ambiguous
Liver N/A heterozygote Ambiguous
Lower leg N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote Ambiguous
Maxillary process N/A heterozygote Ambiguous
Meckel's cartilage N/A heterozygote Ambiguous
Mesonephros of female N/A heterozygote Ambiguous
Mesonephros of male N/A heterozygote Ambiguous
Metanephros N/A heterozygote Ambiguous
Midbrain N/A heterozygote Ambiguous
Nasal septum N/A heterozygote Ambiguous
Nose N/A heterozygote Ambiguous
Notochord N/A heterozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Outflow tract N/A heterozygote Ambiguous
Pancreas N/A heterozygote Ambiguous
N/A heterozygote Ambiguous
Pharynx N/A heterozygote Ambiguous
Chorioallantoic placenta N/A heterozygote Ambiguous
Radius-ulna pre-cartilage condensation N/A heterozygote Ambiguous
Rib pre-cartilage condensation N/A heterozygote Ambiguous
Skeleton N/A heterozygote Ambiguous
Skin N/A heterozygote Ambiguous
Spinal cord N/A heterozygote Ambiguous
Stomach N/A heterozygote Ambiguous
Tail somite N/A heterozygote Ambiguous
Tail N/A heterozygote Ambiguous
Thoracic vertebral cartilage condensation N/A heterozygote Ambiguous
Tongue N/A heterozygote Ambiguous
Trachea N/A heterozygote Ambiguous
Trunk mesenchyme N/A heterozygote Ambiguous
Umbilical artery embryonic part N/A heterozygote Ambiguous
Umbilical vein embryonic part N/A heterozygote Ambiguous
Upper arm N/A heterozygote Ambiguous
Upper leg N/A heterozygote Ambiguous
Urinary system N/A heterozygote Ambiguous
Vibrissa N/A heterozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 0.0%
axial skeleton 0.0%
brain 1.05% (3 of 285)
central nervous system ganglion 0.0%
cranium 0.0%
dorsal root ganglion 0.0%
ear 0.33% (1 of 303)
embryo 0.0%
external ear 2.13% (1 of 47)
eye 0.33% (1 of 304)
femur pre-cartilage condensation 0.0%
footplate 0.0%
forearm 0.58% (1 of 172)
forebrain 0.34% (1 of 297)
forelimb 0.0%
fronto-nasal process 0.0%
gut 0.0%
handplate 0.0%
head 1.04% (3 of 289)
head mesenchyme 0.0%
heart 0.0%
heart ventricle 0.0%
hindbrain 2.01% (6 of 299)
hindlimb 0.0%
humerus pre-cartilage condensation 2.17% (1 of 46)
inner ear 2.5% (1 of 40)
intestine 3.03% (1 of 33)
liver 0.33% (1 of 306)
lower leg 0.54% (1 of 184)
lung 0.34% (1 of 296)
mandibular process 0.0%
maxillary process 0.33% (1 of 301)
meckel's cartilage 0.0%
mesonephros of female 0.0%
mesonephros of male 3.23% (1 of 31)
metanephros 0.0%
midbrain 0.0%
nasal septum 0.0%
nose 0.0%
notochord 0.0%
oral cavity 0.0%
outflow tract 0.0%
pancreas 0.0%
pericardium 0.0%
pharynx 0.0%
placenta 25% (4 of 16)
radius-ulna pre cartilage condensation 0.0%
rib pre-cartilage condensation 3.03% (1 of 33)
skeleton 2.38% (1 of 42)
skin 0.0%
spinal cord 2.27% (1 of 44)
stomach 0.0%
tail 0.0%
tail somite group 0.0%
thoracic vertebral cartilage condensation 3.12% (1 of 32)
tongue 3.23% (1 of 31)
trachea 3.03% (1 of 33)
trunk mesenchyme 2.78% (1 of 36)
umbilical artery embryonic part 2.86% (1 of 35)
umbilical vein embryonic part 2.56% (1 of 39)
upper arm 0.0%
upper leg 0.0%
urinary system 2.94% (1 of 34)
vibrissa 2.22% (1 of 45)

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 Forepaw

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Hind Leg and Hip

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

10 Images

Eye Morphology

Images Slit Lamp

2 Images

Eye Morphology

Images Slit Lamp

4 Images

Human diseases caused by E2f3 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 E2f3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Band keratopathy, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Dermoids Of Cornea
Corneal opacity OMIM:304730
Cataract 20, Multiple Types
Membranous cataract, Cataract OMIM:116100
Cataract-Microcornea Syndrome
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy ORPHA:1377
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Cough, Abnormal cardiovascular system physiolog... ORPHA:50251
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Chronic pulmonary obstruction, Tricuspid regurgitation, P... ORPHA:2414
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea OMIM:267450
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pulmonary edema, Tachycardia, Hypotension, Tachypnea, Respiratory tract infection... ORPHA:70587
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Pulmonary venous hypertension, Abnormal left ventricular function, P... ORPHA:75249
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Abnormal pulmo... ORPHA:330001
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary edema, Pancreatitis, Hypotension, Vasculitis, Shock, Pneumoni... ORPHA:70578
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Corneal opacity, Median cleft palate, Microcornea ORPHA:2432
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Systemic Capillary Leak Syndrome
Pulmonary edema, Pancreatitis, Arrhythmia, Myocarditis, Cough, Hypotension, Pedal edema, Weight l... ORPHA:188
Lattice Corneal Dystrophy Type I
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... ORPHA:98964
Pneumocystosis
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Respiratory i... ORPHA:723
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... ORPHA:98960
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Morquio Syndrome C
Corneal opacity OMIM:252300
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal ... OMIM:612387
Mitochondrial Complex I Deficiency, Nuclear Type 30
Intrauterine growth retardation, Respiratory failure, Neonatal death, Congestive heart failure OMIM:301021
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... ORPHA:199241
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Acute Interstitial Pneumonia
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Nonpr... ORPHA:79126
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Galactosialidosis
Corneal opacity ORPHA:351
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Left bundle branch block, Pulmonary edema, Congestive heart failure, Hypert... OMIM:115197
Primary Effusion Lymphoma
Dyspnea, Pericardial effusion, Pleural effusion ORPHA:48686
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Immunodeficiency 51
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... OMIM:613953
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy OMIM:217800
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pulmonary edema, Skin rash, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Reduced left ventric... ORPHA:542323
Aspergillosis
Keratitis, Asthma, Sinusitis, Osteomyelitis, Chronic pulmonary obstruction, Hypersensitivity pneu... ORPHA:1163
Lymphatic Malformation 7
Respiratory distress, Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Pulmonary Blastoma
Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea, Weight loss ORPHA:64741
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Hypertrophic card... OMIM:613255
Tularemia
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Tachycardia, Cough, Pneumonia, Ple... ORPHA:3392
Avian Influenza
Respiratory distress, Conjunctivitis, Nonproductive cough, Myelitis, Tachypnea, Cough, Pneumothor... ORPHA:454836
Stuve-Wiedemann Syndrome 2
Respiratory distress, Intrauterine growth retardation, Eczema, Neonatal death, Pulmonary arterial... OMIM:619751
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Bronchopulmonary Dysplasia
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Right vent... ORPHA:70589
Stickler Syndrome Type 2
Corneal opacity, Cataract, Cleft palate ORPHA:90654
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Atopic dermatitis, Crackles, Wheezing, Restrictive ventilatory defec... ORPHA:2902
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Hydrops Fetalis
Small for gestational age, Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Ple... ORPHA:1041
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia OMIM:615206
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... ORPHA:45452
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... ORPHA:60033
Scedosporiosis
Bronchial breath sound, Sinusitis, Osteomyelitis, Pleural empyema, Endocarditis, Cough, Pleuritis... ORPHA:449280
Cirrhotic Cardiomyopathy
Pulmonary edema, Third heart sound, Left ventricular diastolic dysfunction, Elevated pulmonary ar... ORPHA:57777
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Follicular Lymphoma
Weight loss, Lymphedema, Pleural effusion ORPHA:545
Immunodeficiency 95
Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon... OMIM:619773
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... ORPHA:132
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Predominantly lower limb lymphedema, Absent eyebrow, Alopecia, Sparse body hai... ORPHA:69735
Pontocerebellar Hypoplasia, Type 13
Asthma, Sleep apnea, Failure to thrive, Long eyelashes, Edema, Pleural effusion, Low posterior ha... OMIM:618606
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:612877
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane ORPHA:1067
Noonan Syndrome 8
Failure to thrive, Short stature, Pulmonic stenosis, Mitral regurgitation, Eczema, Large for gest... OMIM:615355
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Airway obstruction, Skin rash, Arthritis, Cough, Angioedema, Pericardial... ORPHA:36412
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Absence Of The Pulmonary Artery
Growth delay, Pulmonary edema, Nonproductive cough, Systolic heart murmur, Tachycardia, Orthopnea... ORPHA:980
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Bronchiectasis, Reduced FEV1/FVC ratio, Airway ob... ORPHA:1303
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... ORPHA:563
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Pleural effusion, Constrictive pericarditis OMIM:602248
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... OMIM:309300
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Heart block, Syncope, Dyspnea, Congestive heart failure ORPHA:871
Immunodeficiency 91 And Hyperinflammation
Failure to thrive, Maculopapular exanthema, Pulmonary hemorrhage, Membranoproliferative glomerulo... OMIM:619644
Sandhoff Disease
Failure to thrive, Recurrent respiratory infections, Congestive heart failure ORPHA:796
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Short stature, Polyhydramnios, Dilated cardiomyopath... OMIM:300580
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Weig... ORPHA:67
Bardet-Biedl Syndrome 16
Respiratory distress, Bronchiolitis, Recurrent otitis media, Obesity, Recurrent respiratory infec... OMIM:615993
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmona... ORPHA:217607
Limbal Stem Cell Deficiency
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... ORPHA:171673
Winchester Syndrome
Corneal opacity OMIM:277950
Ovarian Hyperstimulation Syndrome
Hirsutism, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effusion, Generalized edema, A... ORPHA:64739
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Mild postnatal growth retardation, Pulmonary lymphangiectasia, Chylous... OMIM:265300
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Idiopathic Achalasia
Wheezing, Cough, Recurrent aspiration pneumonia, Bronchitis, Weight loss ORPHA:930
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... OMIM:180550
Corneal Endothelial Dystrophy
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... OMIM:217700
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
High palate, Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Acute infectious pneumonia, Ta... ORPHA:264675
Hemochromatosis, Type 1
Alopecia, Arrhythmia, Pleural effusion, Telangiectasia, Ascites, Cardiomyopathy, Congestive heart... OMIM:235200
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Peters Anomaly
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... ORPHA:708
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Angioedema, ... ORPHA:100057
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Corneal opacity, Posterior embryotoxon, Bilateral cleft lip and palate, Iris coloboma, Cataract ORPHA:1473
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Combined Oxidative Phosphorylation Deficiency 22
Failure to thrive, Pulmonary arterial hypertension, Intrauterine growth retardation, Congestive h... OMIM:616045
Anterior Segment Dysgenesis 7
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea OMIM:269400
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... ORPHA:98963
Cocaine Intoxication
Respiratory distress, Supraventricular arrhythmia, Subarachnoid hemorrhage, Pneumothorax, Myocard... ORPHA:90068
Corneal Dystrophy, Posterior Polymorphous, 1
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... OMIM:122000
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Ectopia pupillae, Corneal opacity OMIM:608484
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... ORPHA:293603
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Respiratory failure, Congestive heart failure OMIM:616794
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Pneumonia, Respiratory failure, Decreased body weight, Palpitations... ORPHA:340
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Syncope, Dilated cardiomyopathy, Pulmonary arter... OMIM:615396
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... OMIM:617315
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Ethylene Glycol Poisoning
Episodic respiratory distress, Pulmonary edema, Gastritis, Tachycardia, Hypotension, Tachypnea, P... ORPHA:31826
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... OMIM:610256
Hellp Syndrome
Pulmonary edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, General... ORPHA:244242
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Congestive heart fa... OMIM:261740
Meige Disease
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Recurrent... ORPHA:90186
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... OMIM:263000
Congenital Enterovirus Infection
Respiratory distress, Skin rash, Hydrops fetalis, Myocarditis, Hypotension, Polyhydramnios, Hepat... ORPHA:292
Immunodeficiency 104
Otitis media, Eczema, Chronic mucocutaneous candidiasis, Pneumonia, Recurrent otitis media, Failu... OMIM:608971
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Dilated cardiomyopathy, Increased left ventricular end-diastol... OMIM:607482
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... OMIM:136800
Mucolipidosis Iv
Achlorhydria, Corneal opacity, Opacification of the corneal stroma, Dystonia OMIM:252650
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Cholestasis, Progressive Familial Intrahepatic, 5
Failure to thrive, Nonimmune hydrops fetalis, Pleural effusion, Ascites, Prolonged prothrombin time OMIM:617049
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Hypertrophic cardiomyopathy, Low-output congestive heart... ORPHA:91130
Mogs-Cdg
Respiratory distress, Apnea, Hirsutism, Pulmonary edema, Fair hair, Alopecia, Polyhydramnios, Lon... ORPHA:79330
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... OMIM:619466
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Skin rash, Malar rash, Raynaud phenomenon, Alopecia, Myositis, Art... ORPHA:93552
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Systemic-Onset Juvenile Idiopathic Arthritis
Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Anterior uveitis, Pleural effusion, Per... ORPHA:85414
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Ciliary Dyskinesia, Primary, 9
Bronchiectasis, Chronic otitis media, Cough, Chronic rhinitis, Recurrent sinusitis, Chronic sinus... OMIM:612444
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Failure to thrive, Intrauterine growth retardation, Congestive heart failure, Bradycardia OMIM:619048
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Small for gestational age, Hydrops fetalis, Polyhydramnios, Pulmonar... OMIM:616897
Brittle Cornea Syndrome 2
Flat cornea, Inguinal hernia, Megalocornea, Keratoconus, Keratoglobus, Umbilical hernia, Scleroco... OMIM:614170
Gaucher Disease Type 2
Respiratory distress, Cough, Abnormal pattern of respiration, Cardiac arrest, Recurrent respirato... ORPHA:77260
Q Fever
Respiratory distress, Abnormal left ventricular function, Osteomyelitis, Maculopapular exanthema,... ORPHA:781
Acute Lung Injury
Respiratory distress, Abnormal pulmonary interstitial morphology, Tachypnea, Acute pancreatitis, ... ORPHA:178320
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Severe short stature, Lymphocytic interstitial pneumonia OMIM:245590
Anterior Segment Dysgenesis 1
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... OMIM:107250
Nocardiosis
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Weight loss, Respiratory... ORPHA:31204
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Abnormal left ventricular function, Aortic valve stenosi... ORPHA:2041
Anterior Segment Dysgenesis 5
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... OMIM:604229
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... ORPHA:70588
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Failure to thrive, Pulmonary edema,... ORPHA:137675
Mucolipidosis Type Iii
Corneal opacity, Inguinal hernia, Cleft palate ORPHA:577
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... ORPHA:98962
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Hydrops fetalis, Pulmonary embolism, Prolonged bleeding time, Abnormal... ORPHA:90308
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... ORPHA:2038
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Postnatal growth retardation, Small for gestational age, Pulmonary hypoplas... OMIM:616733
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Short stature, Respiratory insufficiency, Dilated cardiomyopathy, Elevated ... OMIM:255160
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Hyperekplexia 2
Exaggerated startle response, Gastroesophageal reflux, Hiatus hernia, Astigmatism OMIM:614619
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... ORPHA:99103
Carvajal Syndrome
Dilated cardiomyopathy, Woolly hair, Congestive heart failure ORPHA:65282
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Macular Corneal Dystrophy
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... ORPHA:98969
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... ORPHA:293381
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Hypertrophic cardiomyopathy, Growth delay, Congestive heart failure OMIM:615440
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency, Arrhythmia, Congestive heart failure ORPHA:157973
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Short stature, Eczema, Lymphadenitis, Acute pancreatitis, Recurrent pneumonia, P... OMIM:618935
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation ORPHA:1832
Combined Oxidative Phosphorylation Deficiency 51
Intrauterine growth retardation, Severe short stature, Small for gestational age, Aspiration pneu... OMIM:619057
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... ORPHA:98974
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
Rigid Spine Syndrome
Respiratory insufficiency, Abnormality on pulmonary function testing, Cardiac conduction abnormal... ORPHA:97244
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Respiratory tract infec... ORPHA:567546
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:611880
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Pneumonia, Hypoxemia, Prolonged bleeding time ORPHA:238459
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Osteoarthritis, Pulmonary embolism, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Conges... ORPHA:1345
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Nail dystrophy, Atopic dermatitis, Pneumonia OMIM:618806
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Growth delay, Chronic bronchitis, Pneumonia OMIM:614069
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Recurrent respiratory infections, Pneumonia OMIM:269840
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Intrauterine growth retardation, Cardiomyopathy ORPHA:26792
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Combined Oxidative Phosphorylation Deficiency 23
Intrauterine growth retardation, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Ring Chromosome 22 Syndrome
Thick eyebrow, Lymphedema, Edema, Pleural effusion, Growth delay ORPHA:1446
Perching Syndrome
Respiratory distress OMIM:617055
Fusariosis
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Myositis, Arthritis, L... ORPHA:228119
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Nonimmune hydrops fetalis, Po... ORPHA:367
Polymyositis
Respiratory insufficiency, Arrhythmia, Abnormal pulmonary interstitial morphology, Arthritis, Cou... ORPHA:732
Complete Atrioventricular Septal Defect
Failure to thrive, Pulmonary venous hypertension, Abnormal P wave, Left-to-right shunt, Systolic ... ORPHA:1329
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Ovarian Fibroma
Peritonitis, Ascites, Pleural effusion ORPHA:314473
Cataract 1, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... OMIM:116200
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pedal edema, Exertional dyspnea, A... ORPHA:615
Autosomal Dominant Keratitis
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... ORPHA:2334
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye ORPHA:83461
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Central sleep apnea, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Re... ORPHA:70472
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Woolly hair, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive heart failure OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Gorham-Stout Disease
Edema, Pleural effusion, Osteomyelitis, Rhinorrhea ORPHA:73
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Cerebral hemorrhage, Respiratory insufficiency, Pleural effu... OMIM:617397
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Supraventricular arrhythmia, Pancreatitis, Vasculitis in the skin, Eczema, ... ORPHA:3260
Poems Syndrome
Hypertrichosis, Leukonychia, Ascites, Edema, Pleural effusion, Restrictive ventilatory defect, We... ORPHA:2905
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Respiratory insufficiency, Reduced vital capacity, Congestive heart failure OMIM:618654
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Familial Idiopathic Dilatation Of The Right Atrium
Tricuspid regurgitation, Palpitations, Midsystolic murmur, Arrhythmia, Syncope, Atrial fibrillati... ORPHA:1677
Inflammatory Bowel Disease (Crohn Disease) 30
Ileitis, Gastritis, Pancolitis, Protein-losing enteropathy, Esophagitis, Duodenitis, Abnormal int... OMIM:619079
Lymphatic Malformation 6
Facial edema, Chylothorax, Genital edema, Short stature, Nonimmune hydrops fetalis, Polyhydramnio... OMIM:616843
Scorpion Envenomation
Bundle branch block, Pulmonary edema, Premature ventricular contraction, ST segment depression, T... ORPHA:466677
Ovarian Fibrothecoma
Hirsutism, Peritonitis, Ascites, Pleural effusion ORPHA:314478
Malignant Atrophic Papulosis
Telangiectasia of the skin, Peritonitis, Myocardial infarction, Weight loss, Pleural effusion, Ga... ORPHA:679
Tempi Syndrome
Abnormality of the pulmonary vasculature, Intracranial hemorrhage, Hypoxemia, Telangiectasia, Tra... ORPHA:284227
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary inters... ORPHA:2032
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613694
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Otitis media, Reduced forced vital capacity, Recu... OMIM:618781
Sialidosis Type 2
Corneal opacity, Inguinal hernia, Flexion contracture, Tremor, Umbilical hernia ORPHA:87876
Left Ventricular Noncompaction 8
Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ventricular systolic dysfunction, ... OMIM:615373
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Chronic ... OMIM:618695
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract, Flexion contracture OMIM:618815
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Microlissencephaly
Pneumonia ORPHA:1083
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Ventricular arrhythmia, Increased left ventricular end-diastolic volu... OMIM:613424
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right sh... ORPHA:99095
Fixed Subaortic Stenosis
Bacterial endocarditis, Angina pectoris, Pulmonary venous hypertension, Left ventricular outflow ... ORPHA:3092
Erdheim-Chester Disease
Joint swelling, Osteomyelitis, Skin rash, Abnormal pulmonary interstitial morphology, Cough, Pleu... ORPHA:35687
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Sudden cardiac death, Ventricular arrhythmia, Increased left ventricula... OMIM:601493
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
American Trypanosomiasis
Skin rash, Arrhythmia, Myocarditis, Cough, Infectious encephalitis, Periorbital edema, Edema, Dys... ORPHA:3386
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Arthritis, Pneumonia, Failure to thrive secon... OMIM:601457
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Respiratory insufficiency, Subarachnoid hem... OMIM:232300
Cataract 47
Cataract, Microcornea OMIM:612018
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Obesity, Hypertension, Congestive heart failure OMIM:615703
Ciliary Dyskinesia, Primary, 23
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615451
Radio-Renal Syndrome
Respiratory distress, Severe short stature, Chylothorax, Pleural effusion, Dyspnea, Respiratory f... ORPHA:3015
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Chronic rhinitis, Chronic sin... ORPHA:922
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... OMIM:617319
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Posterior Polymorphous Corneal Dystrophy
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... ORPHA:98973
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Naxos Disease
Sparse scalp hair, Abnormality of hair texture, Woolly hair, Sudden cardiac death, Paroxysmal ven... ORPHA:34217
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Inguinal hernia, Corneal dystrophy OMIM:609141
Infantile Sialic Acid Storage Disease
Failure to thrive, Fair hair, Hydrops fetalis, Ascites, Congestive heart failure OMIM:269920
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... ORPHA:67043
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Oligohyd... ORPHA:261304
Immunodeficiency 32B
Bronchiectasis, Sinusitis, Recurrent respiratory infections, Pneumonia OMIM:226990
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pre... ORPHA:275766
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Waldenström Macroglobulinemia
Respiratory insufficiency, Retinal hemorrhage, Vasculitis, Pedal edema, Pleural effusion, Periorb... ORPHA:33226
Corneal Dystrophy, Fuchs Endothelial, 6
Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal dystrophy, Corne... OMIM:613270
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Olmsted Syndrome 1
Corneal opacity, Opacification of the corneal stroma, Flexion contracture OMIM:614594
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Short stature, Chronic rhinitis, Recurrent sinusitis, Ciliary dyskinesia, Bro... OMIM:612649
Sarcoidosis, Susceptibility To, 1
Iridocyclitis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Abnormal p... OMIM:181000
Ciliary Dyskinesia, Primary, 39
Chronic lung disease, Cough, Recurrent lower respiratory tract infections, Rhinorrhea, Recurrent ... OMIM:618254
Cardiogenic Shock
Abnormal left ventricular function, Increased pulmonary capillary wedge pressure, Low pulse press... ORPHA:97292
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Babesiosis
Respiratory insufficiency, Cough, Myocardial infarction, Recurrent pharyngitis, Congestive heart ... ORPHA:108
Combined Immunodeficiency, X-Linked
Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media OMIM:312863
Cholesterol Pneumonia
Pneumonia, Cough, Tachypnea OMIM:215030
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, End... ORPHA:183
Behçet Disease
Pancreatitis, Myocardial infarction, Increased inflammatory response, Acne, Gastrointestinal hemo... ORPHA:117
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Intrauterine growth retardation, Hypertrophic cardiomyopathy, Arrhythmia, Infectious encephalitis... ORPHA:1194
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Mulibrey Nanism
Short stature, Hydrops fetalis, Recurrent lower respiratory tract infections, Growth delay, Ascit... OMIM:253250
Ciliary Dyskinesia, Primary, 27
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615504
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Polyhydramnios, Pneumon... ORPHA:596
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Increased left ventricular end-diastolic volume, Syncope, Dilated cardi... OMIM:613697
Ogden Syndrome
Apnea, Sparse eyebrow, Eczema, Long eyelashes, Pulmonary hypoplasia, Intrauterine growth retardat... OMIM:300855
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... ORPHA:2302
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Irregular respiration, Respiratory paralysis, Infectious e... ORPHA:79139
Craniofaciofrontodigital Syndrome
Respiratory distress, Hypertrichosis, Low anterior hairline, Aortic valve stenosis, Lower eyelid ... ORPHA:363705
Primary Intestinal Lymphangiectasia
Edema, Pleural effusion, Generalized edema, Growth delay, Weight loss, Ascites, Pericardial effusion ORPHA:90362
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Short stature, Low posterior hairline, Congestive heart failure ORPHA:261519
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent sinusiti... OMIM:619436
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Decreased DLCO, Cough, Elevated bronchoalveolar lavage ... OMIM:619611
Zygomycosis
Melena, Pancreatitis, Gastritis, Acute infectious pneumonia, Myocarditis, Hematochezia, Rhinorrhe... ORPHA:73263
Cryptococcosis
Respiratory distress, Osteomyelitis, Prostatitis, Nodular pattern on pulmonary HRCT, Peritonitis,... ORPHA:1546
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Upper airway obstruction, Esophagitis, Pneumonia... ORPHA:3348
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, A... ORPHA:439
Xp22.3 Microdeletion Syndrome
Ectopic anus, Opacification of the corneal stroma ORPHA:1643
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Sudden cardiac death, Palpit... OMIM:604169
Interstitial Lung Disease 2
Alveolar cell carcinoma, Decreased DLCO, Cough, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Nipah Virus Disease
Respiratory distress, Hypotension, Cough, Recurrent pharyngitis, Infectious encephalitis ORPHA:99825
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Failure to thrive, Hypertrophic cardiomyopathy, Respiratory failu... ORPHA:444013
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis medi... OMIM:615294
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Brucellosis
Myocarditis, Epididymitis, Pulmonary granulomatosis, Knee osteoarthritis, Pneumonia, Transient is... ORPHA:1304
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Cednik Syndrome
Short stature, Congestive heart failure ORPHA:66631
Ciliary Dyskinesia, Primary, 7
Reduced FEV1/FVC ratio, Cough, Chronic rhinitis, Ciliary dyskinesia, Recurrent pneumonia, Restric... OMIM:611884
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgitation, Left ventr... OMIM:618052
3-Methylglutaconic Aciduria, Type V
Intrauterine growth retardation, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated card... OMIM:610198
Desminopathy
Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakness, Concentric hypertr... ORPHA:98909
Classic Multiminicore Myopathy
Failure to thrive, Short stature, Right ventricular failure, Intermittent episodes of respiratory... ORPHA:324604
Noonan Syndrome 10
Mitral stenosis, Sparse eyebrow, Short stature, Pulmonic stenosis, Mitral regurgitation, Pleural ... OMIM:616564
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Sleep apnea, Severe short stature, Otitis media, Central apnea, Rhizomelia, Disproportionate shor... OMIM:616482
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure ORPHA:2022
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Cough, Abnormal lung morphology, Pleural effusion, Subconjunctival hemorrhag... ORPHA:464329
Isolated Agammaglobulinemia
Failure to thrive, Sinusitis, Skin rash, Otitis media, Short stature, Arthritis, Pneumonia, Infla... ORPHA:229717
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Dyspnea, Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure ORPHA:1349
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hirsutism, Mild postnatal growth retardation, Erysipelas, Pericardial effusion, Lymphedema, Perio... OMIM:235510
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Wheezing, Cough, Bronchie... OMIM:613490
Ciliary Dyskinesia, Primary, 33
Cough, Chronic rhinitis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Cili... OMIM:616726
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Reduced forced vital capacity, Cough, Intercostal retrac... ORPHA:91359
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Failure to thrive, Anomalous pulmonary venous return, Left ventricular outflow tra... ORPHA:860
Harel-Yoon Syndrome
Dystonia, Corneal opacity, Developmental cataract OMIM:617183
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Otitis media, Ciliary dyskinesia, Bronchiectasis, Immotile cilia... OMIM:606763
Erythrokeratodermia Variabilis
Corneal opacity, Cataract ORPHA:317
Pulmonary Alveolar Proteinosis, Acquired
Intraalveolar phospholipid accumulation, Decreased DLCO, Cough, Pneumonia, Restrictive ventilator... OMIM:610910
Ciliary Dyskinesia, Primary, 28
Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis,... OMIM:615505
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Ciliary Dyskinesia, Primary, 12
Chronic pulmonary obstruction, Short stature, Chronic otitis media, Chronic rhinitis, Chronic sin... OMIM:612650
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Dehydration, Polyhydramnios, Rhizomelia, Recurrent pneumonia, Growth delay,... OMIM:616271
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Recurrent otitis media, Short stature, Bronchiolitis, Widow's peak, Pneumonia OMIM:266265
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent sinusitis, Ciliary dyskinesia, Bronchiectasis, Neonatal respira... OMIM:608644
Succinic Acidemia
Respiratory distress OMIM:600335
Short Syndrome
Corneal opacity, Abnormal pupil morphology, Inguinal hernia, Abnormal anterior chamber morphology... ORPHA:3163
Bronchial Neuroendocrine Tumor
Asthma, Tricuspid regurgitation, Nonproductive cough, Right ventricular failure, Palpitations, Br... ORPHA:97287
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Respiratory failure, ... OMIM:310200
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Reduced FEV1/FVC ratio, Osteomyelitis, Abnormal T-wave, Reduced vital capacity, Ce... ORPHA:70591
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Weight loss, Pulmonary arter... ORPHA:1164
Hemochromatosis, Type 2A
Arrhythmia, Arthritis, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Sarcoidosis
Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Uveitis, Abnormal lung morphology,... ORPHA:797
Osteogenesis Imperfecta, Type Ii
Disproportionate short-limb short stature, Small for gestational age, Pulmonary insufficiency, Re... OMIM:166210
Congenital Left Ventricular Aneurysm
Apnea, Abnormal T-wave, Abnormal ST segment, Arrhythmia, Congestive heart failure ORPHA:1055
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Chylothorax, Nonimmune hydrops fetalis, Cerebral ischemia, ... ORPHA:137667
Alpha-Mannosidosis
Corneal opacity, Narrow palate, Macroglossia, Inguinal hernia, Cataract ORPHA:61
Primary Sclerosing Cholangitis
Pancreatitis, Palmar telangiectasia, Spider hemangioma, Hepatitis, Uveitis, Pleural effusion, Ulc... ORPHA:171
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Cystic pattern on pulmo... OMIM:610978
Caspase 8 Deficiency
Asthma, Failure to thrive, Short stature, Eczema, Pneumonia, Recurrent sinopulmonary infections OMIM:607271
Neurotrophic Keratopathy
Corneal scarring, Corneal ulceration, Corneal perforation, Allodynia, Corneal stromal edema, Recu... ORPHA:137596
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Ret... ORPHA:133
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Arrhythmia, Hypertension, Con... OMIM:540000
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Chitayat Syndrome
Respiratory distress, Tracheomalacia, Short stature, Abnormal pulmonary interstitial morphology, ... OMIM:617180
Syndromic Recessive X-Linked Ichthyosis
Corneal opacity, Abnormal stomach morphology ORPHA:281090
Vernal Keratoconjunctivitis
Abnormal cornea morphology, Corneal neovascularization, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Coccidioidomycosis
Respiratory distress, Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Pleural empyema, Peri... ORPHA:228123
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea, Camptodactyly of finger ORPHA:2741
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the lung, Cough, Upper airway obstruction, Dyspnea, Weight loss... ORPHA:142
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption OMIM:221400
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Periodontitis, Skin rash, Hypopigmentation of hair, Abnormal... ORPHA:167
Lymphoproliferative Syndrome 1
Stomatitis, Pericardial effusion, Pleural effusion OMIM:613011
Lymphangioleiomyomatosis
Chylopericardium, Chylothorax, Cough, Gastrointestinal hemorrhage, Lymphedema, Restrictive ventil... ORPHA:538
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... OMIM:310600
Truncus Arteriosus