Gene Summary

Name:
endoglin
Synonyms:
CD105,  Endo

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
abnormal visceral yolk sac morphology Engem1(IMPC)Mbp HOM E9.5 0.00
small kidney Engem1(IMPC)Mbp HET Early adult 0.00
abnormal vitelline vasculature morphology Engem1(IMPC)Mbp HOM E9.5 0.00
abnormal kidney morphology Engem1(IMPC)Mbp HET Early adult 0.00
abnormal caudal vertebrae morphology Engem1(IMPC)Mbp HET   Early adult 1.19×10-06
preweaning lethality, complete penetrance Engem1(IMPC)Mbp HOM   Early adult 0.00
embryonic growth retardation Engem1(IMPC)Mbp HOM E9.5 0.00
abnormal somite shape Engem1(IMPC)Mbp HOM E9.5 0.00
abnormal neural tube morphology Engem1(IMPC)Mbp HOM E9.5 0.00
abnormal pharyngeal arch morphology Engem1(IMPC)Mbp HOM E9.5 0.00
abnormal heart morphology Engem1(IMPC)Mbp HOM E9.5 0.00
increased neutrophil cell number Engem1(IMPC)Mbp HET Early adult 4.13×10-05
prenatal lethality prior to heart atrial septation Engem1(IMPC)Mbp HOM   E15.5 0.00
abnormal placenta morphology Engem1(IMPC)Mbp HET E15.5 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

MicroCT E9.5

Embryo reconstruction

8 Images

Human diseases caused by Eng 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 Eng by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Growth delay, Anemia, Edema ORPHA:329971
Familial Cerebral Saccular Aneurysm
Hypertension, Intracranial hemorrhage, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Plantar telangiectasia, Palmar telangiectasia OMIM:175850
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Uv-Sensitive Syndrome 3
Telangiectasia, Cutaneous photosensitivity OMIM:614640
Familial Multiple Trichoepithelioma
Telangiectasia of the skin ORPHA:867
Rombo Syndrome
Abnormal eyebrow morphology, Abnormal eyelash morphology, Facial telangiectasia OMIM:180730
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Urticaria, Erythema OMIM:154800
Moyamoya Disease
Telangiectasia ORPHA:2573
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension OMIM:615506
Retinal Telangiectasia And Hypogammaglobulinemia
Retinal telangiectasia OMIM:267900
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral hemorrhage OMIM:603284
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Telangiectasia, Alopecia OMIM:614564
Uv-Sensitive Syndrome 1
Telangiectasia, Cutaneous photosensitivity OMIM:600630
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular ar... OMIM:610476
Cutaneous Collagenous Vasculopathy
Vascular skin abnormality, Petechiae, Diffuse telangiectasia, Prominent superficial blood vessels... ORPHA:280779
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal telangiectasia OMIM:619382
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial veins, Congestive h... ORPHA:141179
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Lambert Syndrome
Intrauterine growth retardation, Intrahepatic biliary atresia, Aplasia/Hypoplasia of the cerebell... ORPHA:1296
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Myocardial fibrosis, Joint hemorrhage, Hemoperitoneum, Persistent bleeding after trauma, Subcutan... ORPHA:465
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Subcutaneous calcification, Prominent superficial veins, Congestive h... ORPHA:141184
Pulmonary Blastoma
Dyspnea, Weight loss, Recurrent pneumonia, Cough ORPHA:64741
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Cutis marmorata, Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... ORPHA:45452
Pleural Mesothelioma
Respiratory distress, Cough, Abnormal cardiovascular system physiology, Pleural effusion, Dyspnea... ORPHA:50251
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Telangiectases of the cheeks, Livedo OMIM:615139
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Telangiectasia of the skin, Retinal telangiectasia, Cutaneous photosensitivity ORPHA:438134
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Small for gestational age, Right ventricular failure, Abnormal... ORPHA:70589
Cutaneous Mastocytoma
Telangiectasia of the skin, Flushing, Dermatographic urticaria, Telangiectasia macularis eruptiva... ORPHA:79455
Pulmonary Arteriovenous Malformation
Telangiectasia, Hemothorax, Abnormal bleeding, Pulmonary hemorrhage, Palpitations, Cyanosis, Pleu... ORPHA:2038
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Aspiration pneumonia, Upper airway obstruction, Dyspnea, Weight loss ORPHA:141152
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Cyanosis, Low-output congestive heart failure, Hypertrop... ORPHA:91130
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Cough, Dyspnea, Hypertension, Telangie... OMIM:178600
Schöpf-Schulz-Passarge Syndrome
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Facial telangiectasia, Ectodermal dyspl... ORPHA:50944
Ramon Syndrome
Telangiectasia of the skin, Generalized hirsutism, Failure to thrive ORPHA:3019
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Pulmonary arterial hypertension, Mucosal telangiectasiae ORPHA:220402
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Decreased body weight, Dilated cardiomyopathy, Respiratory insufficiency du... OMIM:300580
Tempi Syndrome
Intracranial hemorrhage, Facial erythema, Hypoxemia, Telangiectasia, Transudative pleural effusion ORPHA:284227
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:612877
Anonychia With Flexural Pigmentation
Macular telangiectasia, Abnormal hair morphology, Alopecia of scalp ORPHA:69125
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Pneumonia... ORPHA:238459
Bronchial Neuroendocrine Tumor
Asthma, Tricuspid regurgitation, Nonproductive cough, Right ventricular failure, Palpitations, Ca... ORPHA:97287
Idiopathic Bronchiectasis
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Myocardial infa... ORPHA:60033
Acrogeria
Excessive wrinkled skin, Telangiectasia of the skin, Prematurely aged appearance, Fine hair ORPHA:2500
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Erythema, Angioedema, Upper airway obstruction, Abnormal capillary physiology ORPHA:100057
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Spontaneous h... ORPHA:99827
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Tachycardia, Acute infectious pneumonia, Tachypnea, Respiratory f... ORPHA:264675
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... ORPHA:60032
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Transaldolase Deficiency
Abnormal respiratory system physiology, Telangiectasia, Premature skin wrinkling ORPHA:101028
Partington Syndrome
Facial telangiectasia ORPHA:94083
Monosodium Glutamate Sensitivity
Dyspnea, Palpitations, Flushing OMIM:231630
Lymphatic Malformation 7
Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Ethanolaminosis
Cardiomegaly OMIM:227150
Tuberculosis
Weight loss, Cough ORPHA:3389
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular outflow tract o... OMIM:613255
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Fragile skin, Cutaneous photosensitivity, Dystrophic toenail, Dystrophic fingernails, T... ORPHA:158673
Neuroendocrine Tumor Of The Colon
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Hypotensi... ORPHA:100080
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Respiratory failure OMIM:263000
Xeroderma Pigmentosum Variant
Telangiectasia, Cutaneous photosensitivity ORPHA:90342
Fetal Parvovirus Syndrome
Hydrops fetalis, Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retar... ORPHA:295
Laryngotracheal Angioma
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia ORPHA:104
Allergic Bronchopulmonary Aspergillosis
Asthma, Respiratory insufficiency, Cough, Emphysema, Bronchiectasis, Weight loss, Pulmonary arter... ORPHA:1164
Ataxia-Telangiectasia
Telangiectasia of the skin, Failure to thrive, Prematurely aged appearance, Mucosal telangiectasi... ORPHA:100
Pericardial Effusion, Chronic
Polycythemia, Pericardial effusion, Constrictive pericarditis OMIM:260900
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Cyanosis, Crackles, Wheezing, Cough, Restri... ORPHA:1302
Chronic Pneumonitis Of Infancy
Respiratory distress, Failure to thrive, Cyanosis, Cough, Tachypnea, Intercostal retractions, Red... ORPHA:91359
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Alopec... ORPHA:93672
Idiopathic Achalasia
Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough ORPHA:930
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Lig4 Syndrome
Failure to thrive, Telangiectasia, Cutaneous photosensitivity OMIM:606593
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Dyspnea, Heart block, Congestive heart failure ORPHA:871
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Congenital Amegakaryocytic Thrombocytopenia
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short stature, Anemia, Thrombocytopenia ORPHA:3319
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Neuroendocrine Tumor Of The Rectum
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Hypotensi... ORPHA:100082
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Carcinoid Syndrome
Asthma, Tricuspid regurgitation, Right ventricular failure, Palpitations, Bronchospasm, Heart mur... ORPHA:100093
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Telangiectasia of the skin, Telangiectasia, Hypertrophic cardiomyopathy ORPHA:79279
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cardiac arrest, Cough ORPHA:77260
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Lymphedema, Patent ductus arteri... OMIM:239850
Prolidase Deficiency
Failure to thrive, Asthma, Petechiae, Diffuse telangiectasia, Facial hirsutism, Chronic lung dise... OMIM:170100
Necrobiosis Lipoidica
Telangiectasia of the skin, Erythema, Fragile skin ORPHA:542592
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia, Cutis marmorata OMIM:219250
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Sudden cardiac death, Palpitations, Orthopnea, Syncope, Ventricular tac... OMIM:613838
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Short stature, Pulmonic stenosis, Microcephaly, Branchial anoma... ORPHA:1131
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Chronic pulmonary obstruction, Pulmonic stenosis, ... ORPHA:2414
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Failure to thrive OMIM:615595
Specific Granule Deficiency 1
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... OMIM:245480
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Hemochromatosis, Type 1
Alopecia, Arrhythmia, Pleural effusion, Telangiectasia, Cardiomyopathy, Congestive heart failure OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hypertrophic cardiomyopathy OMIM:604377
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Vasculitis in the skin, Raynaud phenomenon, Retinal hemorrhage, Gastrointestinal hemorrhage, Tela... OMIM:192315
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Sparse hair, Raynaud phenomenon, Cutis marmorata, Erythema, Tachypnea, Livedo ... OMIM:615934
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Failure to thrive, Cardiomyopathy ORPHA:26792
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Mitral regurgitation, Palpitations, Elevated pulmona... ORPHA:217607
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive, Telangiectasia OMIM:608799
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Mastocytosis
Telangiectasia of the skin, Urticaria, Asthma, Respiratory insufficiency, Arrhythmia, Hypotension... ORPHA:98292
Inhalational Anthrax
Respiratory distress, Hypotension, Abnormal sweat gland morphology, Internal hemorrhage, Dyspnea ORPHA:247257
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops... OMIM:619313
Lymphoproliferative Syndrome 1
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... OMIM:613011
Malignant Atrophic Papulosis
Telangiectasia of the skin, Myocardial infarction, Weight loss, Pleural effusion, Gastrointestina... ORPHA:679
Scleroderma, Familial Progressive
Telangiectasia OMIM:181750
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Solar Urticaria
Urticaria, Dermatographic urticaria, Wheezing, Syncope, Angioedema, Dyspnea ORPHA:97230
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Prominent superficial veins ORPHA:75508
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, I... OMIM:618775
Carcinoma Of Esophagus
Obesity, Weight loss, Cough ORPHA:70482
Telangiectasia, Hereditary Hemorrhagic, Type 2
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... OMIM:600376
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pleural effusion, Generalized edema, Ascit... ORPHA:1041
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Sparse scalp hair, Absent eyebrow, Alopecia, Sparse body hair, Palmar telangiectasia, Cutis marmo... ORPHA:69735
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Adiposis Dolorosa
Telangiectasia of the skin, Bruising susceptibility, Sparse axillary hair, Sparse pubic hair, Obe... ORPHA:36397
Congenital Enterovirus Infection
Leukocytosis, Leukopenia, Hydrops fetalis, Myocarditis, Abnormal macrophage morphology, Polyhydra... ORPHA:292
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Palpitations, Arrhythmia... ORPHA:75566
Acute Lung Injury
Respiratory distress, Tachypnea, Shock, Pneumonia, Hypoxemia, Dyspnea, Diffuse alveolar hemorrhag... ORPHA:178320
Acute Myelomonocytic Leukemia
Abnormal bleeding, Dyspnea, Weight loss ORPHA:517
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Retinal telangiectasia, Gastrointestinal hemorrhage, Portal hypertension, Premature graying of hair OMIM:617341
Drug-Induced Lupus Erythematosus
Anemia, Pericarditis, Thrombocytopenia, Pericardial effusion ORPHA:231111
Congenital Disorder Of Glycosylation, Type Il
Abnormal cardiac septum morphology, Hepatosplenomegaly, Edema, Ascites, Pericardial effusion OMIM:608776
Ataxia-Telangiectasia-Like Disorder 1
Telangiectasia OMIM:604391
Neuroendocrine Tumor Of Stomach
Melena, Hematemesis, Tricuspid regurgitation, Right ventricular failure, Palpitations, Cardiogeni... ORPHA:100075
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Failure to thrive, Cutis marmorata, Arrhythmia, Cerebral ischemia ORPHA:60040
Perry Syndrome
Central hypoventilation, Weight loss, Hypotension ORPHA:178509
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Dilated cardiomyopathy OMIM:611283
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac... ORPHA:70587
Acquired Methemoglobinemia
Respiratory distress, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia, Dyspnea ORPHA:464453
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia OMIM:131400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Failure to thrive, Hypoxemia, Cyanosis, Respiratory insufficiency, Intersti... OMIM:610913
Gaucher Disease Type 1
Splenomegaly, Leukopenia, Pedal edema, Ascites, Abnormal myocardium morphology, Delayed puberty, ... ORPHA:77259
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Right bundle branch block, Dyspnea, Atrial fibrillation, Hypertrophic cardiomyop... OMIM:115195
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough OMIM:234810
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Polyarteritis Nodosa
Raynaud phenomenon, Cutis marmorata, Erythema, Weight loss, Hypertension, Pericarditis, Cardiomyo... ORPHA:767
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Atrial arrhythmia, Systolic heart murmur, Right ... ORPHA:99105
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Systolic heart murmur, Elevated pulmonary artery pressure, Right b... ORPHA:1329
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Trichothiodystrophy 1, Photosensitive
Pili torti, Asthma, Sparse hair, Brittle hair, Tiger tail banding, Small for gestational age, Tri... OMIM:601675
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Decreased DLCO, Cough, Tachypnea, Restrictive ventilatory defect, Dyspnea OMIM:616414
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Palpitations, Bronchospasm, Heart murmur, Facial telangiectasia, Dyspn... ORPHA:100085
Inflammatory Bowel Disease 11
Weight loss, Hematochezia OMIM:191390
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Nonproductive cough, Decreased ... ORPHA:79127
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Anemia, Atrial septal defect OMIM:617408
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Transaldolase Deficiency
Failure to thrive, Asthma, Small for gestational age, Synophrys, Telangiectasia OMIM:606003
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Bruising susceptibility, Respir... ORPHA:729
Perching Syndrome
Respiratory distress OMIM:617055
Reynolds Syndrome
Telangiectasia of the skin, Mucosal telangiectasiae, Respiratory insufficiency, Generalized abnor... ORPHA:779
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Macroglossia, Short stature, ... ORPHA:363705
Antisynthetase Syndrome
Telangiectasia of the skin, Respiratory insufficiency, Myocarditis, Cough, Aortic regurgitation, ... ORPHA:81
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion OMIM:614684
Ataxia-Telangiectasia-Like Disorder 2
Telangiectasia, Cutaneous photosensitivity, Conjunctival telangiectasia OMIM:615919
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Respiratory insufficiency, Global systolic dysfunction, Cardiomyopathy OMIM:606842
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Heart murmur, Syncope, Abnormal cardiovascular system phys... ORPHA:422
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Riddle Syndrome
Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia, Erythema, Recurrent sin... ORPHA:420741
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Sudden cardiac death, Syncope, R... OMIM:113900
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Wheezing, Pneumot... ORPHA:70588
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Weight loss ORPHA:2198
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Right vent... ORPHA:555874
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypertensive crisis, Dyspnea, Pulmonary arterial hypertension, Conges... ORPHA:220393
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Respiratory insufficiency, Arrhythmia, Congestive heart failure ORPHA:157973
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... OMIM:618652
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Weight loss, Cachexia OMIM:612075
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Hypotensi... ORPHA:36238
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Attrv30M Amyloidosis
Weight loss, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Failure to thrive, Respiratory insufficiency, Restrictive ventilatory defec... OMIM:614399
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Jau... ORPHA:57777
Xeroderma Pigmentosum, Variant Type
Telangiectasia, Cutaneous photosensitivity OMIM:278750
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Epidermodysplasia Verruciformis
Telangiectasia of the skin ORPHA:302
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Small for gestational age OMIM:616733
Primary Intestinal Lymphangiectasia
Lymphopenia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Edema, Ple... ORPHA:90362
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Erythrokeratodermia Variabilis
Generalized hirsutism, Alopecia, Erythema, Cutaneous photosensitivity, Weight loss, Abnormal hair... ORPHA:317
Aicardi-Goutieres Syndrome 9
Left ventricular hypertrophy, Hepatosplenomegaly, Pericarditis, Hemolytic anemia, Edema, Lower li... OMIM:619487
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Nipah Virus Disease
Respiratory distress, Hypotension, Cough ORPHA:99825
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Acute Promyelocytic Leukemia
Petechiae, Bruising susceptibility, Abnormal bleeding, Oral cavity bleeding, Gingival bleeding, P... ORPHA:520
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Facioscapulohumeral Muscular Dystrophy 1
Retinal telangiectasia, Restrictive ventilatory defect OMIM:158900
Capillary Malformation-Arteriovenous Malformation
High-output congestive heart failure, Vascular skin abnormality, Chylothorax, Abnormal bleeding, ... ORPHA:137667
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Cerebral calcification, Microcephaly, Ascites, Intrauterine growth retard... ORPHA:858
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Palpitations, Syncope,... OMIM:612098
Polymyositis
Respiratory insufficiency, Arrhythmia, Vasculitis, Cough, Myocardial infarction, Abnormal atriove... ORPHA:732
Rhabdoid Tumor
Hypertension, Weight loss, Respiratory insufficiency, Internal hemorrhage ORPHA:69077
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Palpitations, Ventricular tachycardia, Dyspnea, Atrial fibrillation, Hypertrophi... OMIM:613873
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Idiopathic Chronic Eosinophilic Pneumonia
Asthma, Nonproductive cough, Crackles, Generalized abnormality of skin, Wheezing, Restrictive ven... ORPHA:2902
Succinic Acidemia
Respiratory distress OMIM:600335
Xeroderma Pigmentosum, Complementation Group E
Telangiectasia, Cutaneous photosensitivity OMIM:278740
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal pattern of respiration, Cerebral ischemia, Vasculitis, Myoc... ORPHA:3287
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Respiratory failure, Left ... ORPHA:563
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Hypertension, Retinal neovascularization, Pneumonia, Gastrointestinal hemorrh... ORPHA:247691
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Sudden cardiac death, Palpitations, T-wave inversion, Ventricular fib... OMIM:608751
Interstitial Lung Disease 2
Decreased DLCO, Cough, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension OMIM:178500
Gaucher Disease Type 3
Aortic valve calcification, Splenomegaly, Mitral valve calcification, Hydrops fetalis, Abnormal m... ORPHA:77261
Laryngeal Neuroendocrine Tumor
Exertional dyspnea, Weight loss ORPHA:100083
Bullous Pemphigoid
Urticaria, Weight loss, Erythema ORPHA:703
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Palpitations, Sudden cardiac death, T-wav... OMIM:608758
Chronic Beryllium Disease
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Cough, Abn... ORPHA:133
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Evans Syndrome
Petechiae, Jaundice, Bruising susceptibility, Syncope, Dyspnea, Epistaxis ORPHA:1959
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macrocephaly, Cardiomegaly, Congestive heart failure OMIM:300886
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Myositis, Edema, Pleural effusion, Microangiopathic hemolytic anemia, Th... ORPHA:93552
Timothy Syndrome
Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, P... OMIM:601005
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Galactose Epimerase Deficiency
Weight loss, Jaundice ORPHA:79238
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Atrial septal defect, Atrioventricular canal defect, Microcephaly, Hypopla... ORPHA:453499
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... ORPHA:85451
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Angioedema, Pleural effusion, Abnormal heart valve morphology, Ascites, Pericardial... ORPHA:36412
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia OMIM:615381
Werner Syndrome
Pili torti, Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged appearance, ... ORPHA:902
Diffuse Alveolar Hemorrhage
Pulmonary venous hypertension, Airway obstruction, Increased DLCO, Respiratory failure requiring ... ORPHA:90060
Atrial Standstill
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... ORPHA:1344
Pseudoxanthoma Elasticum
Angina pectoris, Telangiectasia of the skin, Bruising susceptibility, Restrictive cardiomyopathy,... ORPHA:758
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Xeroderma Pigmentosum, Complementation Group C
Telangiectasia, Cutaneous photosensitivity OMIM:278720
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Urticaria, Failure to thrive, Respiratory insufficiency, Erythema, Ar... ORPHA:2135
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Sparse hair, Absent eyebrow, Alopecia, Palmar telangiectasia, Absent eyelashes OMIM:607823
Primary Familial Polycythemia
Abnormal bleeding, Cough, Dyspnea, Exertional dyspnea, Epistaxis ORPHA:90042
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Exertional dyspnea, Pulmonary arterial hyper... OMIM:265400
Hodgkin Lymphoma
Dyspnea, Weight loss, Cough ORPHA:98293
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia OMIM:205950
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Short stature, Ventricular septal defect, Patent ductus arter... ORPHA:290
Systemic Sclerosis
Telangiectasia, Intestinal bleeding, Raynaud phenomenon, Alopecia, Right ventricular failure, Myo... ORPHA:90291
Congenital Sialidosis Type 2
Generalized hypertrichosis, Telangiectasia, Petechiae, Abnormal EKG ORPHA:93400
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Failure to thrive, Left ventricular outflow tract obstruction, Respiratory ... ORPHA:308552
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Facial telangiectasia in ... OMIM:137940
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Microcephaly, Severe postnatal growth retardation ORPHA:435938
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Short stature, Pericardial constriction, Hydrops fetalis, Grow... OMIM:253250
Pneumocystosis
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... ORPHA:723
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Lig4 Syndrome
Telangiectasia of the skin, Cutaneous photosensitivity, Erythema, Low anterior hairline ORPHA:99812
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cardiomyopathy, Cough ORPHA:86812
Coats Disease
Retinal telangiectasia OMIM:300216
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holos... ORPHA:1677
Acute Interstitial Pneumonia
Reduced hematocrit, Peripheral edema, Pericardial effusion, Pleural effusion ORPHA:79126
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Subcutaneous hemorrhage, Bruising susceptibility, Abnormal ble... ORPHA:335
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cerebral atrophy, Splenomegaly, Hydrops fetalis, Ascites, Cardiomegaly, Congestive ... OMIM:269920
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Xeroderma Pigmentosum, Complementation Group A
Telangiectasia, Cutaneous photosensitivity OMIM:278700
Ramon Syndrome
Decreased body weight, Telangiectasia, Hypertrichosis, Angiokeratoma OMIM:266270
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... ORPHA:99106
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Weight loss, Stridor ORPHA:142
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Failure to thrive, Apnea, Hypoxemia, Cyanosis, Tachypnea, Cough, Neonatal r... OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent sinusitis, Recurrent pneumonia, Nail dystrophy, Telangiectasia, Sparse ... OMIM:604173
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morp... ORPHA:3405
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Dermatomyositis
Telangiectasia of the skin, Abnormal hair quantity, Sinus tachycardia, Respiratory insufficiency,... ORPHA:221
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Angiokeratoma corporis diffusum, Telangiectasia o... ORPHA:79280
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial fibr... OMIM:612158
Myotonic Dystrophy 1
Respiratory distress, Frontal balding, Atrial flutter, Atrial fibrillation, First degree atrioven... OMIM:160900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Joint contracture of the hand, Mild postnatal growth retardation, Spina bif... OMIM:235510
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Generalized abnormality of sk... ORPHA:367
Systemic Capillary Leak Syndrome
Arrhythmia, Hypotension, Myocarditis, Cough, Weight loss, Rhinorrhea, Pleural effusion, Cardiores... ORPHA:188
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Jaundice, Small for gestational age, Tachycardia, Arrhy... ORPHA:26793
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive, Cardiomyopathy ORPHA:79312
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ventricular cardiom... OMIM:609040
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pneumonia, Transient isch... ORPHA:99103
Diffuse Neonatal Hemangiomatosis
Hydrops fetalis, Polyhydramnios, Patent ductus arteriosus, Anemia, Thrombocytopenia, Ascites ORPHA:2123
Acquired Purpura Fulminans
Macular purpura, Intracranial hemorrhage, Shock, Internal hemorrhage, Acrocyanosis, Prolonged pro... ORPHA:49566
Bannayan-Riley-Ruvalcaba Syndrome
Angina pectoris, Subcutaneous hemorrhage, Cutis marmorata, Intracranial hemorrhage, Cachexia, Tel... ORPHA:109
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Intracranial hemorrhage, Weight loss, Respiratory failure, Prolonged ble... ORPHA:3226
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Chroni... ORPHA:324
Eosinophilic Granulomatosis With Polyangiitis
Asthma, Urticaria, Sinusitis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Respiratory i... ORPHA:183
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Congenital diaphragmatic hernia, Scimitar anomaly, ... OMIM:618280
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Moynahan Syndrome
Cachexia, Sparse hair, Alopecia ORPHA:2574
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Flushing, Positive regitine blocking test, Cerebra... ORPHA:94080
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Myocardit... ORPHA:3342
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial infarction, Abnormal... ORPHA:330001
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Arrhythmia, Dilated car... OMIM:300257
Xeroderma Pigmentosum, Complementation Group D
Corneal neovascularization, Telangiectasia, Cutaneous photosensitivity OMIM:278730
Juvenile Idiopathic Arthritis
Joint swelling, Pericardial effusion, Splenomegaly ORPHA:92
Pontocerebellar Hypoplasia, Type 2E
Failure to thrive, Facial telangiectasia OMIM:615851
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the eyebrow, Failure to thrive, Respiratory distress, Sparse hair ORPHA:261304
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Q Fever
Splenomegaly, Anemia, Hepatosplenomegaly, Endocarditis, Myocarditis, Pleural effusion, Abnormal h... ORPHA:781
Lymphoid Interstitial Pneumonia
Failure to thrive, Pulmonary venous hypertension, Hypoxemia, Raynaud phenomenon, Crackles, Wheezi... ORPHA:79128
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productive cough, Pneu... ORPHA:454836
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crackles, Decreased DLCO, Cough, Restrictive ventilatory defect, Hypoxemia, Dyspnea, We... ORPHA:747
Mercury Poisoning
Respiratory distress, Interstitial pneumonitis, Tachycardia, Hypotension, Dyspnea, Hypertension, ... ORPHA:330021
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Oligohydramnios, Cardiomyopathy, Cardiomegaly OMIM:617713
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Palpitations, Tachycardia OMIM:188580
Cap Polyposis
Weight loss, Hematochezia ORPHA:160148
Pemphigus Vulgaris
Urticaria, Weight loss ORPHA:704
Asbestos Intoxication
Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonproductive cough, Right ve... ORPHA:2302
Distal 22Q11.2 Microdeletion Syndrome
Atrial septal defect, Short stature, Branchial fistula, Microcephaly, Ventricular septal defect, ... ORPHA:261330
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Hallermann-Streiff Syndrome
Sparse scalp hair, Sparse hair, Sparse eyebrow, Sparse eyelashes, Small for gestational age, Trac... OMIM:234100
Holoprosencephaly
Abnormal pulmonary valve morphology, Macrocephaly, Microcephaly, Short neck, Abnormality of the s... ORPHA:2162
Livedoid Vasculopathy
Telangiectasia of the skin, Cutis marmorata, Macular purpura, Poor wound healing, Ecchymosis, Hyp... ORPHA:542643
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... ORPHA:766
Poems Syndrome
Polycythemia, Thrombocytosis, Edema, Pleural effusion, Ascites, Pericardial effusion ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ih
Oligohydramnios, Neonatal death, Camptodactyly, Patent ductus arteriosus, Edema, Anemia, Thromboc... OMIM:608104
Alpha-Thalassemia-Myelodysplastic Syndrome
Abnormal bleeding, Dyspnea, Bruising susceptibility ORPHA:231401
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Formiminoglutamic Aciduria
Megaloblastic anemia, Anemia, Atrial septal defect ORPHA:51208
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Pericardial effusion OMIM:115200
Chromosome 6Pter-P24 Deletion Syndrome
Telangiectasia, Frontal upsweep of hair OMIM:612582
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology ORPHA:300751
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Telangiectases of the cheeks, Mitral regurgitation, P... ORPHA:576
Alkuraya-Kucinskas Syndrome
Edema, Pericardial effusion, Arthrogryposis multiplex congenita, Camptodactyly OMIM:617822
Holocarboxylase Synthetase Deficiency
Respiratory distress, Weight loss, Tachypnea, Alopecia ORPHA:79242
Rodrigues Blindness
Fine hair, Sparse hair, Nasal flaring, Ectodermal dysplasia OMIM:268320
Infantile Systemic Hyalinosis
Telangiectasia of the skin, Urticaria, Failure to thrive ORPHA:2176
Drug Reaction With Eosinophilia And Systemic Symptoms
Interstitial pneumonitis, Erythema, Myocarditis, Cough, Angioedema, Dyspnea, Weight loss, Cardiac... ORPHA:139402
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
9Q33.3Q34.11 Microdeletion Syndrome
Asthma, Epistaxis, Abnormal hair pattern, Telangiectasia, Highly arched eyebrow ORPHA:495818
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Pleural effusion, Anemia, Thrombocy... ORPHA:464329
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Prolonged neonatal jaundice, Respiratory distress, Bradycardia ORPHA:226313
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Microcephaly, Hydrops fetalis, Short neck, Cerebellar hypoplasia, Ventricular septal defect, Poly... OMIM:616897
Mitochondrial Complex I Deficiency, Nuclear Type 36
Microcephaly, Periventricular leukomalacia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Microcephaly, H... OMIM:201475
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Pneumonia, Respiratory failure, Decreased body weight, Palpitations... ORPHA:340
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... OMIM:619051
Huntington Disease-Like 2
Weight loss ORPHA:98934
Aicardi-Goutieres Syndrome 7
Splenomegaly, Limb hypertonia, Oligohydramnios, Thrombocytopenia, Hemolytic anemia, Edema, Pancyt... OMIM:615846
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Wheezing, Cough, Weight loss, Failure to thrive in infancy ORPHA:171876
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Telangiectasia of the skin ORPHA:85321
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Mitral regurgitation, Telangiectasia, Epistaxis, Hematochezia OMIM:175050
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hirsutism, Mucosal telangiectasiae, Eunuchoid habitus, Synophrys, Low posterior hairline ORPHA:2463
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Rothmund-Thomson Syndrome, Type 2
Sparse scalp hair, Premature graying of hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebr... OMIM:268400
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Short stature, Poikilocytosi... OMIM:615631
Leigh Syndrome With Cardiomyopathy
Respiratory distress, Failure to thrive, Hypertrichosis, Apnea, Pulmonic stenosis, Mitral regurgi... ORPHA:70474
Neuraminidase Deficiency
Hepatomegaly, Facial edema, Short stature, Splenomegaly, Hydrops fetalis, Ascites, Cardiomyopathy... OMIM:256550
Oligomeganephronia
Branchial cyst, Hypertension, Dehydration, Secundum atrial septal defect ORPHA:2260
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Hematochezia ORPHA:103910
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Riboflavin Transporter Deficiency
Hypertension, Respiratory insufficiency, Sleep apnea, Cachexia ORPHA:97229
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Adult Acute Respiratory Distress Syndrome
Abnormal blood gas level, Vasculitis, Hypotension, Shock, Pneumonia, Hypoxemia, Dyspnea, Respirat... ORPHA:70578
Sepsis In Premature Infants
Petechiae, Decreased body weight, Small for gestational age, Abnormal bleeding, Cyanosis, Tachyca... ORPHA:90051
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Graves Disease, Susceptibility To, 1
Weight loss, Congestive heart failure OMIM:275000
Aortic Arch Interruption
Intermittent claudication, Respiratory distress, Blood pressure substantially higher in arms than... ORPHA:2299
Distal 22Q11.2 Microduplication Syndrome
Tricuspid valve prolapse, Macrocephaly, Tricuspid regurgitation, Branchial fistula, Microcephaly,... ORPHA:261337
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Anemia, Intrauterine growth retardation, Cardiomegaly OMIM:618838
Hereditary Angioedema Type 1
Respiratory distress, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor, Dyspnea ORPHA:100050
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Nonimmune hydrops fetalis, Thrombocytosis, Cardiomyopathy, Edema, Pericardit... OMIM:212065
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Abnormal na... ORPHA:167
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Pericarditis, Polyhydramnios, Anemia, Oligohy... ORPHA:163596
Malaria
Respiratory distress ORPHA:673
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, Hypertrophic cardio... OMIM:212140
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Pulmonary ede... ORPHA:980
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Elevated pulmonary artery pressure, Heart murmur, Syncope,... ORPHA:275766
Alagille Syndrome
Telangiectasia of the skin, Failure to thrive, Hypertension ORPHA:52
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Surfactant Metabolism Dysfunction, Pulmonary, 1
Failure to thrive, Apnea, Cyanosis, Tachypnea, Neonatal respiratory distress, Dyspnea, Pulmonary ... OMIM:265120
Dohle Bodies And Leukemia
Secundum atrial septal defect, Leukocyte inclusion bodies, Lymphedema, Anemia, Acute myeloid leuk... OMIM:223350
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... ORPHA:1457
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Jaundice, Spider hemangioma ORPHA:2137
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Prolonged bleeding time, Internal hemorrhage, Gast... ORPHA:90308
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive, Cerebral ischemia ORPHA:927
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Failure to thrive OMIM:618426
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy, Ventricular tachycardia, ... OMIM:600649
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Aortic valve stenosis, Bruising susceptibility, Aortic regurgitatio... OMIM:208050
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Tularemia
Respiratory distress, Tachycardia, Cough, Pleural effusion, Pneumonia ORPHA:3392
Al Amyloidosis
Abnormal P wave, Jaw claudication, Bruising susceptibility, Nonproductive cough, Arrhythmia, Abno... ORPHA:85443
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Cyanosis, Right-to-left shunt, Subarac... OMIM:610655
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss, Hypertrophic cardiomyopathy, Respiratory insufficiency ORPHA:1842
Atrial Septal Defect, Coronary Sinus Type
Supraventricular arrhythmia, Bundle branch block, Left-to-right shunt, Systolic heart murmur, Pre... ORPHA:99104
Bloom Syndrome
Abdominal obesity, Chronic pulmonary obstruction, Patchy alopecia, Sparse eyelashes, Small for ge... ORPHA:125
Choanal Atresia
Respiratory distress, Tracheomalacia, Cyanosis, Abnormal nasal mucus secretion, Chronic sinusitis... ORPHA:137914
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Cutaneous photosensitivity ORPHA:312
Incontinentia Pigmenti
Telangiectasia of the skin, Supernumerary nipple, Alopecia, Erythema, Retinal hemorrhage, Cerebra... ORPHA:464
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Pulmonary venous hypertension, T... ORPHA:75249
Chronic Hiccup
Weight loss ORPHA:396
Hyperphosphatasia-Intellectual Disability Syndrome
Telangiectasia, Highly arched eyebrow, Supernumerary nipple ORPHA:247262
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Microcephaly, Hypoplasia of ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Optic nerve hypoplasia, Microcephaly, Hypoplasia of ... ORPHA:352665
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss, Tachycardia OMIM:613239
Hypercalcemia, Infantile, 1
Pulmonic stenosis, Failure to thrive, Weight loss, Aortic valve stenosis OMIM:143880
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Weight loss OMIM:605543
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Prolonged QRS complex, Cerebral hemorrhage, Di... ORPHA:90068
Isaacs Syndrome
Weight loss ORPHA:84142
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Conjunctival telangiectasia, Facial telangiectasia OMIM:208910
Xeroderma Pigmentosum
Telangiectasia of the skin, Failure to thrive, Alopecia, Conjunctival telangiectasia, Erythema, C... ORPHA:910
Myhre Syndrome
Generalized muscle hypertrophy, Aortic valve stenosis, Atrial septal defect, Skeletal muscle hype... OMIM:139210
Thymic Carcinoma
Dyspnea, Weight loss, Cough ORPHA:99868
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Hypotension, Shortened PR interval, Biventricular hype... OMIM:261740
Cantú Syndrome
Macrocephaly, Short neck, Patent ductus arteriosus, Umbilical hernia, Abnormal heart valve morpho... ORPHA:1517
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Congenital Tracheomalacia
Failure to thrive, Apnea, Tracheomalacia, Decreased peak expiratory flow, Cyanosis, Respiratory i... ORPHA:95430
Colchicine Poisoning
Respiratory distress, Alopecia, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocardi... ORPHA:31824
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Stt3B-Cdg
Respiratory distress, Failure to thrive ORPHA:370924
Rare Cutaneous Lupus Erythematosus
Telangiectasia of the skin, Urticaria, Vascular skin abnormality, Leukonychia, Erythema, Cutaneou... ORPHA:535
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
H Syndrome
Abnormal eyebrow morphology, Hypertrichosis, Alopecia, Chronic rhinitis, Abnormal cardiovascular ... ORPHA:168569
Classical-Like Ehlers-Danlos Syndrome Type 2
Mitral valve prolapse, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosis, Pericardi... ORPHA:536532
Amoebiasis Due To Entamoeba Histolytica
Pleural empyema, Constrictive pericarditis, Cough, Pleural effusion, Dyspnea, Weight loss, Conges... ORPHA:67
Martin-Probst Syndrome
Telangiectasia, Hypoplastic nipples OMIM:300519
Tetrasomy 5P
Respiratory distress, Failure to thrive, Cyanosis, Heart murmur, Pulmonary arterial hypertension,... ORPHA:3309
Angioosteohypertrophic Syndrome
Telangiectasia of the skin, Cutis marmorata, Pulmonary embolism, Gastrointestinal hemorrhage, Con... ORPHA:2346
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive OMIM:615597
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Weight loss, Re... ORPHA:98897
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Aymé-Gripp Syndrome
Congenital diaphragmatic hernia, Short stature, Camptodactyly, Patent ductus arteriosus, Postnata... ORPHA:1272
Alpha-N-Acetylgalactosaminidase Deficiency
Lymphedema, Cerebral cortical atrophy, Cerebellar hypoplasia, Cardiomegaly ORPHA:3137
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Bloom Syndrome
Hypertrichosis, Facial telangiectasia in butterfly midface distribution, Small for gestational ag... OMIM:210900
Rheumatoid Arthritis
Weight loss, Vasculitis OMIM:180300
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Failure to thrive, Exertional dyspnea, Hypertrophic cardiomyopathy, Respira... OMIM:220110
Triosephosphate Isomerase Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency, Respiratory failure, Prolonge... OMIM:615512
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Cachexia, Weight loss, Premature graying of hair, Abnormal h... ORPHA:1979
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Pulmonary Capillary Hemangiomatosis
Pedal edema, Pulmonary edema, Pericardial effusion, Pleural effusion ORPHA:199241
Lethal Congenital Contracture Syndrome 10
Torticollis, Oligohydramnios, Hydrops fetalis, Short neck, Ventricular septal defect, Stiff neck,... OMIM:617022
Laryngotracheoesophageal Cleft