Gene Summary

Name:
endothelial PAS domain protein 1
Synonyms:
HLF,  MOP2,  hypoxia inducible transcription factor 2alpha,  Hif like protein,  HIF2A,  bHLHe73,  HIF-2alpha,  HRF

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
preweaning lethality, complete penetrance Epas1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
increased total body fat amount Epas1em1(IMPC)Wtsi HOM Early adult 1.92×10-05
decreased hemoglobin content Epas1tm1b(EUCOMM)Hmgu HET Early adult 6.31×10-09
abnormal heart morphology Epas1tm1b(EUCOMM)Hmgu HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 50% (1 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Brown adipose tissue  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Esophagus  Wholemount images heterozygote 100% (2 of 2)
Eye  Wholemount images heterozygote 100% (2 of 2)
Gall bladder  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote 100% (2 of 2)
Liver  Wholemount images heterozygote 100% (2 of 2)
Lower urinary tract  Wholemount images heterozygote 100% (2 of 2)
Lung  Wholemount images heterozygote 100% (2 of 2)
Lymph node  Wholemount images heterozygote 100% (2 of 2)
Mammary gland  Wholemount images heterozygote 50% (1 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Oral epithelium  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 50% (1 of 2)
Parathyroid gland  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Peyer's patch  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Skin  Wholemount images heterozygote 100% (2 of 2)
Small intestine  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Spleen  Wholemount images heterozygote 100% (2 of 2)
Stomach  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thymus  Wholemount images heterozygote 100% (2 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trachea  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 100% (2 of 2)
White adipose tissue  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.53% (3 of 571)
aorta 0.18% (1 of 564)
bone 0.0%
brain 0.71% (4 of 562)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 562)
cerebellum 0.53% (3 of 571)
cerebral cortex 0.35% (2 of 570)
esophagus 1.79% (7 of 391)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 570)
hippocampus 0.52% (3 of 573)
hypothalamus 0.35% (2 of 568)
kidney 3.55% (20 of 563)
large intestine 1.59% (9 of 566)
liver 0.0%
lower urinary tract 0.17% (1 of 576)
lung 0.18% (1 of 563)
lymph node 0.18% (1 of 568)
mammary gland 0.0%
olfactory lobe 0.35% (2 of 570)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.88% (5 of 568)
parathyroid gland 0.19% (1 of 538)
peripheral nervous system 0.35% (2 of 566)
peyers patch 0.0%
pituitary gland 0.18% (1 of 563)
prostate gland 2.1% (12 of 572)
skeletal muscle 0.0%
skin 0.18% (1 of 570)
small intestine 1.59% (9 of 567)
spinal cord 0.35% (2 of 569)
spleen 0.53% (3 of 564)
stomach 2.13% (12 of 564)
striatum 0.35% (2 of 571)
testis 1.07% (6 of 563)
thymus 0.17% (1 of 573)
thyroid gland 2.99% (17 of 568)
trachea 0.52% (3 of 572)
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

29 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Epas1 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.

The table below shows human diseases associated to Epas1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Parag... ORPHA:276621

The table below shows human diseases predicted to be associated to Epas1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lipomatosis, Multiple Symmetric
Lipoma OMIM:151800
Lipomatosis, Multiple
Multiple lipomas OMIM:151900
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... OMIM:133100
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... OMIM:263400
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Nonspecif... OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Desquamative interstitial pneumonitis, Death in infancy, Tachypnea... OMIM:265120
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Ras-Associated Autoimmune Leukoproliferative Disorder
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... OMIM:614470
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Acute myeloid leukemia, Leukopenia, Monocytosis OMIM:616871
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Ciliary Dyskinesia, Primary, 29
Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasal nitric oxid... OMIM:615872
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Subpleural honeycombing, Crackles, Bronchie... ORPHA:79126
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Dyspnea, Ground-glass opacification, Cough ORPHA:60026
Tempi Syndrome
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Ascites, Abnormality of the pulmonary vascula... ORPHA:284227
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Cyanosis, Respirat... ORPHA:70587
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Howell-J... OMIM:613759
Familial Nasal Acilia
Abnormal respiratory motile cilium morphology, Bronchiectasis, Chronic rhinitis, Chronic sinusiti... ORPHA:922
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure OMIM:613255
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Bronchiectasis, Recurrent bronchitis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... ORPHA:70588
Primary Familial Polycythemia
Polycythemia, Epistaxis, Abnormal hemoglobin ORPHA:90042
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Respiratory insufficiency, Leukopenia, Monocytosis, Mitral regurgitati... OMIM:612541
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Tachypnea, Elevated bronchoalveolar... OMIM:610978
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, Dextrocardia, ... OMIM:616749
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Abnormal left ventricle m... OMIM:615373
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Atrial Fibrillation, Familial, 18
Palpitations, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Bradycardia OMIM:617280
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Hypoxemia, Honeycomb lung, Chronic pulmonary obstruction, Chronic bronchitis, Bronchiec... ORPHA:79127
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Cyanosis, Recurrent respiratory infections, Decreased ... OMIM:610910
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis ORPHA:168621
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis, Reduced subcutaneous adipose t... OMIM:268500
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, B... ORPHA:1303
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Chronic pulmonary obstruction, Emphysema OMIM:130700
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... ORPHA:1302
Adult Idiopathic Neutropenia
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis ORPHA:2688
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Abnormal tricuspid valve morphology, Pulmonary artery atresia, Patent ductus arteriosus, Maternal... ORPHA:1208
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Exertional dy... ORPHA:2041
Staphylococcal Necrotizing Pneumonia
Shock, Leukocytosis, Hypoxemia, Pneumonia, Leukopenia, Increased circulating procalcitonin concen... ORPHA:36238
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Tracheopathia Osteoplastica
Wheezing, Dyspnea, Recurrent pneumonia, Cough OMIM:189961
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilation, Aspirati... ORPHA:90117
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Monocytosis, Lymphadenopathy, Pulmonary hemorrhage, Recurrent lower respiratory tra... OMIM:619644
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis,... OMIM:616201
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hypertrophy, Hepatic steatos... OMIM:619048
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Pleural Mesothelioma
Abnormal respiratory system physiology, Cough, Respiratory distress, Abnormal lung morphology, Ab... ORPHA:50251
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia... OMIM:613673
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Perimembranous ventricular septal defect, Bradycardia, ... OMIM:618782
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Trimethylaminuria
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly, Recurrent pneumonia OMIM:602079
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... ORPHA:75566
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure, Abnormality of the liver ORPHA:132
Severe Acute Respiratory Syndrome
Hypoxemia, Cough, Respiratory distress, Acute infectious pneumonia, Chronic lung disease, Dyspnea... ORPHA:140896
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Atrial fibrillation, Mitral regurgitation, Left atrial enlargement OMIM:617047
Familial Dilated Cardiomyopathy
Right ventricular dilatation, Reduced ejection fraction, Atrial fibrillation, Mitral regurgitatio... ORPHA:217607
Duodenal Neuroendocrine Tumor
Right ventricular failure, Tricuspid stenosis, Lymphadenopathy, Insulinoma, Melena, Intrahepatic ... ORPHA:100076
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Pulmonary cyst, Abnormal pleura morphology, Dyspnea, Abnorma... ORPHA:2357
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Abnormalit... ORPHA:90064
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Recurrent respiratory infections, Cyan... ORPHA:2004
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... ORPHA:199241
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
Idiopathic Bronchiectasis
Wheezing, Productive cough, Crackles, Abnormal respiratory system physiology, Bronchiectasis, Red... ORPHA:60033
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency, Patent ductus arteriosus OMIM:601612
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production OMIM:237800
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, Dyspnea, HbH hemo... ORPHA:231401
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Pulmonary fibrosis, Exertional dyspnea, Atelectasis, Bronchiolitis ORPHA:254361
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomyopathy, Splenomegaly... OMIM:602390
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Cirrhosis, Hypogonadism, Congestive... OMIM:613313
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic steat... OMIM:618234
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Cyanosis, Intercos... ORPHA:91359
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Tachypnea, Supraventricular t... ORPHA:45452
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Hypoxemia, Crackles, Cough, Cyanosis, Decreased DLCO, Restrictive ventilato... ORPHA:747
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Pulmonary infiltrate... ORPHA:99931
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Respiratory insufficiency, Hypogonadotropic hypogonadi... ORPHA:848
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress OMIM:614399
Pulmonary Hypertension, Primary, 1
Pulmonary artery vasoconstriction, Right ventricular failure, Telangiectasia, Hypertension, Arter... OMIM:178600
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Gaisböck Syndrome
Hypertension, Elevated diastolic blood pressure, Increased red blood cell count, Increased circul... ORPHA:90041
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary arterial hypertension, Cou... OMIM:178500
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Neonatal respiratory distress, Pulmonary situs ambiguus, Bronchiectas... ORPHA:244
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cough, Abnormal pattern of respiration ORPHA:77260
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Arrhythmia, Bradycardia, Atrial fibrillation OMIM:614302
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Tachypnea, Coarctation of aorta, Anemia, Pulmonary arterial hypertension, Atrial sep... OMIM:614857
Morbid Obesity And Spermatogenic Failure
Hypertension, Type II diabetes mellitus, Myocardial infarction, Hepatic steatosis, Congestive hea... OMIM:615703
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Chronic bronchitis, Neutropenia, Chronic pulmonary obstruction, Leukopenia, Br... OMIM:618986
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Abnormal respiratory system physiology, Third heart sound, Exer... ORPHA:99106
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... OMIM:300770
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis, Anterior hypopi... ORPHA:2022
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Respiratory insufficiency, Tachypnea, Cardiomegaly, Anisoc... OMIM:618278
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Wheezing, Crackles, Third heart sound, Abnormal E... ORPHA:1329
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Respiratory tract infection, Autoimmune thrombocytopeni... ORPHA:444463
Poems Syndrome
Thrombocytosis, Pericardial effusion, Ascites, Polycythemia, Lymphadenopathy, Respiratory insuffi... ORPHA:2905
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypoxemia, Hypochromia, Stomatocytosis, Tachypnea, Tachycard... ORPHA:71275
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Abnormal left ventricle morphology, Congestive heart failur... ORPHA:1055
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Hemosiderin-laden macrophages in bronchoalveolar fluid, Tachypnea, Cough, Pulmonary hemorrhage, A... OMIM:616414
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... ORPHA:254875
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... ORPHA:70578
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Epilepsy, Pyridoxine-Dependent
Respiratory distress, Neonatal respiratory distress OMIM:266100
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... ORPHA:2257
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... ORPHA:133
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Truncus arteriosus, Respiratory insufficiency OMIM:228940
Immunodeficiency 52
Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Ly... OMIM:617514
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency ORPHA:139406
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Foam cells with lamellar inclusion bodies, Dy... OMIM:607616
Autoimmune Hemolytic Anemia, Cold Type
Dyspnea, Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Left ventricular hypertrophy, Congestive heart failure, Diabetes mellitus, Wolff-Pa... OMIM:540000
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Congestive heart failure, A... ORPHA:225
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Exertional d... ORPHA:99050
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Thrombocythemia 2
Thrombocytosis OMIM:601977
Sandhoff Disease
Hepatomegaly, Congestive heart failure, Splenomegaly ORPHA:796
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Incr... ORPHA:60025
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory failure, Neonatal death, Apnea, Respiratory insufficiency OMIM:610127
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Fixed Subaortic Stenosis
Syncope, Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Mitral regurgi... ORPHA:3092
Familial Atrial Myxoma
Bacterial endocarditis, Cardiac myxoma, Cardiomegaly, Tricuspid regurgitation, Jaundice, Congesti... ORPHA:615
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Single ventricle, Apnea, Patent ductus arteriosus, Decre... ORPHA:95430
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia, Patent ductus arteriosus OMIM:616867
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Pagod Syndrome
Abnormality of the spleen, Abnormal aortic morphology, Situs inversus totalis, Pulmonary artery h... ORPHA:991
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Cardiac arrest, C... ORPHA:49827
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Hypoxemia, Pericardial effusion, Systolic heart murmur, Right ventricular hypertrop... ORPHA:555874
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Livedoid Vasculopathy
Leukocytosis, Hypertension, Ischemic stroke, Polycythemia, Abnormal capillary morphology, Anemia,... ORPHA:542643
Familial Pseudohyperkalemia
Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... ORPHA:90044
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Fadd-Related Immunodeficiency
Ventricular septal defect, Pulmonary artery atresia, Hepatic fibrosis ORPHA:306550
Larsen-Like Syndrome, Lethal Type
Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:245650
Ciliary Dyskinesia, Primary, 1
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Absent outer dynein arms, Chroni... OMIM:244400
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Seckel Syndrome 9
Ventricular septal defect, Pulmonary artery hypoplasia, Atrial septal defect, Asthma, Recurrent r... OMIM:616777
Lipoyltransferase 1 Deficiency
Decreased liver function, Pulmonary arterial hypertension, Bradycardia, Elevated hepatic transami... OMIM:616299
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Splenomegaly, Anemia of inadequate production OMIM:224100
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Re... OMIM:618781
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... ORPHA:449280
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure ORPHA:163596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Pneumonia, Lymphadenopathy, Splenomegaly, T lymphocytopenia OMIM:608971
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Ventricular tachycardia, Atrioventricular block,... OMIM:212138
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Spherocytosis, Type 5
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612690
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Abnormal heart morpho... OMIM:614954
Ciliary Dyskinesia, Primary, 2
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Absent inner and outer dynein arms, Respiratory di... OMIM:606763
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Reduced ejection fraction, Angina pectoris, Res... ORPHA:85451
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia ORPHA:33574
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy, Atelectasis OMIM:300219
Choanal Atresia
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Cyanosis, Abnormal nasal mucus... ORPHA:137914
Double Outlet Right Ventricle
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Tachypnea, Double outlet right... ORPHA:3426
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Tetralogy of Fallot,... OMIM:601005
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma ORPHA:141179
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Nasal polypo... OMIM:618695
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... ORPHA:454836
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decreased mean cor... OMIM:615234
Hemochromatosis, Type 1
Testicular atrophy, Telangiectasia, Hepatomegaly, Hepatocellular carcinoma, Hypogonadotropic hypo... OMIM:235200
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Elevated circulating thyroid-stimulating hormone concentration, Decr... ORPHA:95717
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Klippel-Trénaunay Syndrome
Hepatomegaly, Respiratory insufficiency, Ascites, Abnormal tricuspid valve morphology, Patent duc... ORPHA:90308
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Vasculitis OMIM:617718
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Perching Syndrome
Respiratory distress OMIM:617055
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia OMIM:314050
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Cerebral ischemia, Ebstein anomaly of the t... ORPHA:1880
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia OMIM:618849
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Propionic Acidemia
Hepatomegaly, Neutropenia, Tachypnea, Apnea, Anemia, Cardiomyopathy, Pancreatitis, Pancytopenia, ... OMIM:606054
Slc35A1-Cdg
Hypoxemia, Pneumonia, Pulmonary hemorrhage, Subcutaneous hemorrhage, Respiratory distress ORPHA:238459
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... ORPHA:90060
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Enlarged mesenteric lymph node, Pneumonia, Lymphadenopathy, Anemia,... OMIM:209950
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:254210
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Spinal arteriovenous malformation, Spontaneous, recurrent epistaxis, Pulmonary art... OMIM:187300
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Desminopathy
Concentric hypertrophic cardiomyopathy, Atrioventricular block, Congestive heart failure, Sudden ... ORPHA:98909
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Microvesicular hepatic steatosis, Prolonged QT interval, Noncompaction ca... OMIM:610198
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Tachypnea, Aortic regurgitation, Patent d... OMIM:616501
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Endocardial fibrosis, Atrioventricular block, Suprav... OMIM:612158
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Telangiectasia, Leukopenia, Tachypnea, Paratracheal lymphadenopathy, Anemia, Rayn... OMIM:615934
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Pulmonary arterial hypertension, Respiratory insufficiency OMIM:605711
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Patent ductus arteriosus, Splenomegaly, Abnormal... ORPHA:290
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Jaundice, Anemia of i... ORPHA:231222
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Cirrhotic Cardiomyopathy
Left atrial enlargement, Hepatomegaly, Global systolic dysfunction, Reduced ejection fraction, Ve... ORPHA:57777
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Hepatic hemangioma ORPHA:141184
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Respiratory insufficiency... OMIM:601186
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Leukocytosis, Hypertension, Respiratory insufficiency, Lymphadenitis, Apnea,... OMIM:618886
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pul... OMIM:613101
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, ST segment depression, Transient ischemi... ORPHA:99103
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia OMIM:616649
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Abdominal situs inversus, Double outlet right ventricle, Atrial situs ... OMIM:617205
Hydrops Fetalis, Nonimmune
Congestive heart failure OMIM:236750
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Neonatal death, Death in infancy, Death in childhood OMIM:619334
Alpha-1-Antitrypsin Deficiency
Emphysema, Jaundice ORPHA:60
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Mitral valve prolapse, Mitral regurgitation, Aortic regurgitation, Short c... OMIM:314400
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Abnormal... ORPHA:439
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... ORPHA:95716
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Ciliary Dyskinesia, Primary, 23
Productive cough, Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchie... OMIM:615451
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Congestive heart failure, Heart murmur ORPHA:3400
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... OMIM:605809
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
3-Methylglutaconic Aciduria, Type Viii
Respiratory failure, Apnea, Death in infancy OMIM:617248
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Type II diabetes mellitus, Hemobilia, Budd-Chiari syndrome, Polycyt... ORPHA:88673
Telangiectasia, Hereditary Hemorrhagic, Type 2