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
decreased hemoglobin content Epas1tm1b(EUCOMM)Hmgu HET Early adult 6.31×10-09
increased total body fat amount Epas1em1(IMPC)Wtsi HOM Early adult 1.92×10-05
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 0.58% (3 of 515)
aorta 0.19% (1 of 518)
bone 0.0%
brain 0.77% (4 of 520)
brainstem 0.38% (2 of 524)
brown adipose tissue 0.0%
cartilage tissue 0.19% (1 of 524)
cerebellum 0.57% (3 of 522)
cerebral cortex 0.38% (2 of 525)
esophagus 1.9% (7 of 368)
eye 0.0%
gall bladder 0.0%
heart 0.2% (1 of 499)
hippocampus 0.59% (3 of 509)
hypothalamus 0.39% (2 of 511)
kidney 5.06% (26 of 514)
large intestine 5.39% (28 of 519)
liver 0.0%
lower urinary tract 0.0%
lung 0.38% (2 of 528)
lymph node 0.2% (1 of 510)
mammary gland 0.0%
olfactory lobe 0.39% (2 of 519)
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.4% (2 of 500)
parathyroid gland 0.0%
peripheral nervous system 0.19% (1 of 521)
peyers patch 0.0%
pituitary gland 0.19% (1 of 515)
prostate gland 1.98% (10 of 504)
skeletal muscle 0.0%
skin 0.0%
small intestine 5.07% (26 of 513)
spinal cord 0.4% (2 of 506)
spleen 0.58% (3 of 517)
stomach 3.2% (17 of 532)
striatum 0.58% (3 of 521)
testis 0.99% (5 of 505)
thymus 0.19% (1 of 529)
thyroid gland 2.89% (15 of 519)
trachea 0.58% (3 of 520)
uterus 0.38% (2 of 528)
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.

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

Adult LacZ

LacZ Images Wholemount

29 Images

Echo

M-Mode Images

32 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

MicroCT E14.5-E15.5

Embryo reconstruction

2 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 hemoglobin, Increased hematocrit OMIM:611783
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... 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
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
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
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Abnormal respiratory system physiolog... ORPHA:70589
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Asbestos Intoxication
Reduced vital capacity, Reduced forced vital capacity, Ground-glass opacification, Respiratory fa... ORPHA:2302
Pulmonary Blastoma
Pulmonary infiltrates, Pleuropulmonary blastoma, Cough, Recurrent pneumonia, Dyspnea ORPHA:64741
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... OMIM:610921
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Interlobular septal thickening, Apnea, Desquamative interstitial pneumonitis, Cyanosis, Intraalve... OMIM:265120
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Stroke, Increased hematocrit, Cerebral hemorrh... OMIM:263400
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT ORPHA:60026
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Immunodeficiency 95
Respiratory distress, Ground-glass opacification, Recurrent viral upper respiratory tract infecti... OMIM:619773
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Ciliary Dyskinesia, Primary, 21
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Neonatal respiratory dis... OMIM:615294
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Pulmonary edema, Tachypnea, Atelectasis, Neonatal respiratory distress, Dys... OMIM:267450
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Atelectasis, Chronic sinusitis, Bronchiectasis, Recurrent respirat... OMIM:253240
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis, Recurrent resp... OMIM:619466
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Ciliary Dyskinesia, Primary, 29
Atelectasis, Ciliary dyskinesia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Acute Interstitial Pneumonia
Interlobular septal thickening, Pulmonary infiltrates, Subpleural honeycombing, Nodular pattern o... ORPHA:79126
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Tempi Syndrome
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Intracranial hemorr... ORPHA:284227
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cholesterol Pneumonia
Cyanosis, Cough, Tachypnea, Death in infancy, Pneumonia OMIM:215030
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Recurrent upper respiratory tract infe... ORPHA:60032
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract in... OMIM:263000
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Cyanosis, Tachypnea, Atelectasis, Respiratory tract infection, Pneumonia, Hypoxe... ORPHA:70587
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Pericardial Effusion, Chronic
Polycythemia, Constrictive pericarditis OMIM:260900
Ciliary Dyskinesia, Primary, 20
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... OMIM:615067
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Familial Nasal Acilia
Respiratory distress, Recurrent upper respiratory tract infections, Abnormal respiratory motile c... ORPHA:922
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Pulmonary sequestration, Anomalous pulmonary venous retu... ORPHA:185
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... OMIM:610913
Ciliary Dyskinesia, Primary, 33
Cough, Recurrent lower respiratory tract infections, Chronic rhinitis, Atelectasis, Recurrent bro... OMIM:616726
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Respiratory insufficiency, Abnormal pleura morphology, Cough, Restrictive ... ORPHA:724
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... ORPHA:70588
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Parenchymal consolidation... ORPHA:2902
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Pulmonary infiltrates, Hypoxemia, ... OMIM:610978
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Death in childhood, Respiratory failure, Recurrent respiratory infections OMIM:253300
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin, Epistaxis ORPHA:90042
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... ORPHA:79127
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Right ao... OMIM:616749
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Airway obstruction, Reduced FEV1/FVC ratio, Bronc... ORPHA:1303
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
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
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia, Respiratory failure OMIM:619887
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Tracheobronchopathia Osteochondroplastica
Respiratory insufficiency, Wheezing, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia, Upp... ORPHA:3348
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Erythrocytosis, Familial, 8
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia OMIM:222800
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Left ventricular n... OMIM:616249
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis ORPHA:168621
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Pneumocystosis
Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial pneumonitis, Respiratory i... ORPHA:723
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Ground... ORPHA:1302
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis OMIM:300455
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal diabetes, Pulmonary arter... ORPHA:1208
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Intraalveolar phospholipid accumulation, Cough, Decreased DLCO, Pneumonia, Restrictive ... OMIM:610910
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Coronary artery aneurysm, Cardiomegaly, Abnormal heart mo... ORPHA:2041
Interstitial Lung Disease 1
Interlobular septal thickening, Crackles, Cough, Decreased DLCO, Ground-glass opacification, Intr... OMIM:619611
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Dyspnea, Upper airway obstruction, Respiratory distress ORPHA:141152
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... OMIM:615248
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Neutrophilia, Leukocytosis, Nonproductive cough, Pleural empyema, Leukopeni... ORPHA:36238
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Pulmonary hemorrha... OMIM:619644
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... OMIM:619048
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Idiopathic Pulmonary Fibrosis
Crackles, Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Cough,... ORPHA:2032
Intellectual Developmental Disorder With Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617173
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema OMIM:130700
Surfactant Metabolism Dysfunction, Pulmonary, 5
Interlobular septal thickening, Respiratory insufficiency, Intraalveolar phospholipid accumulatio... OMIM:614370
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Acute Lung Injury
Respiratory distress, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, Tachypne... ORPHA:178320
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Cough, Respiratory failure requiring assisted ventilation, Dyspnea, Respira... ORPHA:90117
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... ORPHA:264675
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia OMIM:602079
Pulmonary Atresia With Intact Ventricular Septum
Hypoplastic right heart, Pulmonary artery atresia OMIM:265150
Larynx Atresia
Respiratory insufficiency, Recurrent respiratory infections ORPHA:1202
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Pleural Mesothelioma
Respiratory distress, Abnormal respiratory system physiology, Abnormal pleura morphology, Cough, ... ORPHA:50251
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Recurrent lower respiratory tr... OMIM:612541
Butyrylcholinesterase Deficiency
Myocardial infarction, Abnormality of the liver, Congestive heart failure ORPHA:132
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Bronchogenic Cyst
Abnormal pleura morphology, Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneu... ORPHA:2357
Duodenal Neuroendocrine Tumor
Melena, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Right ventricular fai... ORPHA:100076
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Decreased DLCO, Cough, Dyspnea, Pulmonary arterial hypertension, Pulm... OMIM:234810
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... ORPHA:90064
Thrombocythemia 3
Thrombocytosis, Ischemic stroke OMIM:614521
Pulmonary Capillary Hemangiomatosis
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Cyanosis, Elevated pulmon... ORPHA:199241
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Right aortic arch, Dextrotransposition of the great arteries, Pulm... OMIM:613751
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, ... OMIM:178550
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea OMIM:611722
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis ORPHA:254361
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly OMIM:237800
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Sarcoidosis, Susceptibility To, 2
Pulmonary infiltrates, Hypoxemia, Abnormal pulmonary interstitial morphology, Pulmonary arterial ... OMIM:612387
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Chronic Pneumonitis Of Infancy
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Cyanosis, Reduced forced... ORPHA:91359
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Hypogonadotropic hypogonadism, Mitral regurgitation, Pulmonary ins... ORPHA:2326
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Intraalveolar phospholipid accumulation, Reduced ... OMIM:300770
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiom... OMIM:602390
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... OMIM:613313
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Phosphoserine Aminotransferase Deficiency
Apnea, Death in infancy, Cyanotic episode OMIM:610992
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis... OMIM:178600
Cyanosis And Hepatic Disease
Dyspnea, Cyanosis OMIM:219400
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Maternal ... ORPHA:45452
Laryngotracheoesophageal Cleft
Cyanosis, Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor, Recurrent respirato... ORPHA:2004
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Congestive heart fai... OMIM:618234
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... ORPHA:99931
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... ORPHA:747
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower respirato... ORPHA:60033
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Chronic bronchitis, Recurrent sinus... OMIM:608647
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Gro... ORPHA:133
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Foam cells with lamellar inclusion bodies, Ab... OMIM:607616
Gaisböck Syndrome
Angina pectoris, Peripheral arterial stenosis, Stroke, Increased hematocrit, Hypovolemia, Elevate... ORPHA:90041
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... ORPHA:411703
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... OMIM:601419
Apnea, Central Sleep
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration OMIM:207720
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Interstitial pneumonitis, Intraalveolar phospholipid accumulation, Chronic... ORPHA:217563
Primary Ciliary Dyskinesia
Airway obstruction, Anomalous pulmonary venous return, Wheezing, Chronic rhinitis, Pulmonary situ... ORPHA:244
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Bilateral lung agenesis, Patent ductus arteriosus, Neonatal death OMIM:601612
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Resp... ORPHA:444463
Bardet-Biedl Syndrome 16
Bronchiolitis, Respiratory distress, Recurrent respiratory infections OMIM:615993
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... ORPHA:848
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Atrial fibrillation, Arrhythmia, Bradycardia OMIM:614302
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism ORPHA:846
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Chronic pulmonary obstruction, Chronic bronchitis, Recurrent respirator... OMIM:618986
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia, Respiratory failure, Neonatal respiratory distress OMIM:619057
Rh Deficiency Syndrome
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Macrocytic anemia, Hem... ORPHA:71275
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... ORPHA:99106
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Myocardial infarction, Hypertension, Hepatic steatosis, Congestive hea... OMIM:615703
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Splenomegaly OMIM:179700
Atransferrinemia
Abnormality of the liver, Congestive heart failure OMIM:209300
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Anterior hypopituitarism, Congestive hear... ORPHA:2022
Poems Syndrome
Abnormality of the endocrine system, Polycythemia, Increased circulating prolactin concentration,... ORPHA:2905
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Abcd Syndrome
Polycythemia OMIM:600501
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Pulmonary infiltrates, Pulmonary edema, Pneumonia, Hypoxemia, Dyspnea, ... ORPHA:70578
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... OMIM:616414
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... ORPHA:766
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Myofiber disarray, ... OMIM:115197
Interstitial Lung Disease 2
Alveolar cell carcinoma, Cough, Decreased DLCO, Usual interstitial pneumonia, Dyspnea, Exertional... OMIM:178500
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Pulmonary hypoplasia, Pneumonia, Tracheomalacia, Wheezing,... ORPHA:95430
Avian Influenza
Respiratory distress, Pulmonary infiltrates, Miscarriage, Hypoxemia, Nonproductive cough, Tachypn... ORPHA:454836
Primary Pulmonary Hypoplasia
Apnea, Asthma, Hypoxemia, Cyanosis, Tachypnea, Pulmonary hypoplasia, Abnormal breath sound, Restr... ORPHA:2257
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cyanosis, Cough, Pleural effusion, Pulmonary... ORPHA:2414
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Heart murmur, Ventricular septal ... ORPHA:99050
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Recurrent respiratory infections, Cough ORPHA:77260
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal... ORPHA:266
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... ORPHA:563
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... ORPHA:3092
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia, Splenomegaly ORPHA:228312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... OMIM:618278
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... OMIM:615631
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Thrombocythemia 2
Thrombocytosis OMIM:601977
Sandhoff Disease
Hepatomegaly, Splenomegaly, Congestive heart failure ORPHA:796
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... OMIM:140400
Diffuse Alveolar Hemorrhage
Irregular septal thickening on pulmonary HRCT, Airway obstruction, Increased DLCO, Pulmonary veno... ORPHA:90060
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Arrhythmia, Hypertension, Hypertrophic cardiomyopathy, Congestive hear... ORPHA:225
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Respiratory failure, Interlobular septal thickening, Ox... ORPHA:60025
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Coarctation of aorta, Tachypnea, Pulmonary arterial hypertension, Patent du... OMIM:614857
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Alpha-1-Antitrypsin Deficiency
Panacinar emphysema, Chronic pulmonary obstruction, Chronic bronchitis, Cough, Wheezing, Bronchie... OMIM:613490
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Sick Sinus Syndrome 4
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... OMIM:619464
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic transaminase, Vent... OMIM:212138
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis OMIM:301083
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval OMIM:600919
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Cholestasis, Heart murmur, Pulmonic valve myxoma... ORPHA:615
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... ORPHA:3203
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory insufficiency, Respiratory failure, Neonatal death, Truncus arteriosus OMIM:228940
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... ORPHA:139507
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Death in infancy, Recurrent respiratory infections ORPHA:139406
Pagod Syndrome
Hypoplastic left heart, Sudden cardiac death, Abnormality of the spleen, Arrhythmia, Situs invers... ORPHA:991
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Bronchiolitis obliterans organ... OMIM:619802
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Diabetes mellitus... ORPHA:49827
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Lipoyltransferase 1 Deficiency
Decreased liver function, Pulmonary arterial hypertension, Elevated hepatic transaminase, Bradyca... OMIM:616299
Fadd-Related Immunodeficiency
Ventricular septal defect, Hepatic fibrosis, Pulmonary artery atresia ORPHA:306550
Livedoid Vasculopathy
Telangiectasia of the skin, Graves disease, Abnormal capillary morphology, Leukocytosis, Polycyth... ORPHA:542643
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Patent ductus arteriosus, Pulmonary hypoplasia, Respiratory failure OMIM:616867
Seckel Syndrome 9
Asthma, Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Recurrent r... OMIM:616777
Propionic Acidemia
Apnea, Hepatomegaly, Pancreatitis, Cerebellar hemorrhage, Tachypnea, Pancytopenia, Neutropenia, A... OMIM:606054
Ciliary Dyskinesia, Primary, 1
Chronic rhinitis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Ciliary dyskinesia, Pneum... OMIM:244400
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... OMIM:612240
Scedosporiosis
Sinusitis, Apical pulmonary opacity, Pleural empyema, Cough, Pleuritis, Bronchitis, Respiratory f... ORPHA:449280
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure ORPHA:163596
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... ORPHA:90044
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory insufficiency, Respiratory failure OMIM:613869
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... OMIM:616689
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen ovale, Prolonged Q... OMIM:601005
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Foam cells, Thrombocytopenia OMIM:269600
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Stillbirth, Neonatal death, Congestive heart failure OMIM:619751
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Pulmonary arterial hypertension ORPHA:1164
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect, Hypertrophic cardiomyopathy, Bradycardia OMIM:616277
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... OMIM:108900
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:2590
Glutamate-Cysteine Ligase Deficiency
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis ORPHA:33574
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Cirrhotic Cardiomyopathy
Right atrial enlargement, Hepatomegaly, Jaundice, Third heart sound, Left ventricular diastolic d... ORPHA:57777
Wild Type Attr Amyloidosis
Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarc... ORPHA:330001
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... OMIM:187300
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... OMIM:615234
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141179
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Peripheral arteriovenous fistula, Respiratory insufficiency, ... ORPHA:90308
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Respiratory insufficiency, Congenital th... OMIM:618886
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... OMIM:235200
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... ORPHA:95717
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Tracheomalacia, Persistence of hemoglobi... OMIM:612561
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Hypoplastic left heart, Pulmonic stenosis, Tac... ORPHA:3426
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... OMIM:209950
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory failure, Neonatal death, Respiratory insufficiency due to muscle weakness OMIM:611890
Laryngeal Web, Familial
Respiratory distress, Recurrent upper respiratory tract infections, Stridor OMIM:150360
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Tracheomalacia OMIM:245650
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated car... OMIM:610198
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Immotile cilia, Bronchiectasis, Absent inner... OMIM:606763
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia OMIM:614654
Sting-Associated Vasculopathy, Infantile-Onset
Telangiectasia, Lymphopenia, Raynaud phenomenon, Leukopenia, Follicular hyperplasia, Tachypnea, T... OMIM:615934
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Tricuspid regurgitation, Left ventricular noncompaction, Tachypnea, Aortic regurgitation, Patent ... OMIM:616501
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Aspergillosis
Asthma, Sinusitis, Pulmonary infiltrates, Chronic pulmonary obstruction, Hypersensitivity pneumon... ORPHA:1163
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in childhood, Respiratory insufficiency, Death in adolescence, Intraalveolar phospholipid a... OMIM:618042
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Congenital Rubella Syndrome
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Type I diabetes mell... ORPHA:290
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis OMIM:603529
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141184
Hypermanganesemia With Dystonia 1
Polycythemia OMIM:613280
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Ventricular septal defect, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aorti... OMIM:620025
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Reduced forced vital capacity, Recurren... OMIM:618695
Microphthalmia, Syndromic 9
Agenesis of pulmonary vessels, Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Si... OMIM:601186
Perching Syndrome
Respiratory distress OMIM:617055
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pneumonia, Hypoxemia ORPHA:238459
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent upper respiratory tract infections,... OMIM:613101
Spherocytosis, Type 2