Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

latent transforming growth factor beta binding protein 4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Ltbp4 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 Ltbp4 by orthology or direct annotation.

Disease Similarity of
Matching phenotypes Source
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Patent foramen ovale, Tracheomalacia, Gastroesophageal reflux, Rectal prolapse, Pylori... OMIM:613177
Duchenne Muscular Dystrophy
Respiratory insufficiency, Cardiomyopathy ORPHA:98896

The table below shows human diseases predicted to be associated to Ltbp4 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Bronchopulmonary Dysplasia
Abnormal respiratory system physiology, Emphysema, Pulmonary sequestration, Respiratory failure r... ORPHA:70589
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Cirrhosis, Hepat... OMIM:613490
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Tachypnea, Ventric... ORPHA:860
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Papilloma, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Abdomin... ORPHA:424019
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Hypertrophic cardiomyopathy, Congestive heart failure, Dyspnea OMIM:613255
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Masp2 Deficiency
Ulcerative colitis, Recurrent pneumonia OMIM:613791
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Bronchogenic Cyst
Abnormal stomach morphology, Bronchogenic cyst, Abnormal myocardium morphology, Pneumonia, Abnorm... ORPHA:2357
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Abnormal... ORPHA:2302
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Uveitis, Erythema nodosum, Hypo... OMIM:612387
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Rectal prolapse, Anemia, Neoplasm of the lung, Renal cell carcinoma,... ORPHA:2869
Immunodeficiency 76
Recurrent pneumonia, T lymphocytopenia, Colitis, Splenomegaly, Chronic diarrhea, B-cell lymphoma,... OMIM:619164
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Squamous ... ORPHA:60032
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Single ventricle, Ventricular septal defect, Cardiomegaly, Whee... ORPHA:95430
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis, Verrucae OMIM:613860
Rowley-Rosenberg Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Atelectasis, Hypertension, Right ventricula... OMIM:268500
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Birt-Hogg-Dubé Syndrome
Multiple lipomas, Emphysema, Medullary thyroid carcinoma, Parathyroid adenoma, Pneumothorax, Pulm... ORPHA:122
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Axial muscle atrophy, Decreased cervical spine flexion due to contra... ORPHA:254361
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Dextrocardia, ... OMIM:615067
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Impaired myocardial contractility, Endocardial fibroelastosis OMIM:607482
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties, D... ORPHA:141152
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Dyspnea, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular c... OMIM:610476
Primary Ciliary Dyskinesia
Recurrent otitis media, Double outlet right ventricle, Productive cough, Recurrent sinopulmonary ... ORPHA:244
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Constipation, Protracted diarrhea, Mechanical ileus, Midgut malrotation, Fu... ORPHA:100079
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Common Variable Immunodeficiency
Emphysema, Gastrointestinal stroma tumor, Restrictive ventilatory defect, Pneumonia, Abnormality ... ORPHA:1572
Hypocomplementemic Urticarial Vasculitis
Uveitis, Lymphoma, Episcleritis, Ascites, Conjunctivitis, Diarrhea, Skin rash, Emphysema, Cough, ... ORPHA:36412
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Solitary Rectal Ulcer Syndrome
Hematochezia, Bloody diarrhea, Intermittent diarrhea, Stercoral ulcer, Bloody mucoid diarrhea, Re... ORPHA:209964
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Pulmonary infiltrates, Crohn's disease, Decreased proportion of memory B cells, Dec... OMIM:618394
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Abnormality of the gastrointestinal tract, Res... ORPHA:2902
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Splenomegaly, Abnormal pattern of respiration, Cough, Hepato... ORPHA:77260
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Burkitt lymphoma OMIM:618307
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Abnormal eosinophil morphology, Cough, Bronchiectasis, Pulmonary arterial hype... ORPHA:1164
Visceral Myopathy 2
Hiatus hernia, Megaduodenum, Intestinal malrotation, Gastroesophageal reflux, Intestinal obstruct... OMIM:619350
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Cr... OMIM:610978
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Hematochezia, Neoplasm of the gastrointestinal tract, Colon cancer, Refract... ORPHA:157794
Congenital Gerbode Defect
Right atrial enlargement, Crackles, Left-to-right shunt, Pedal edema, Ventricular septal defect, ... ORPHA:99095
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiorespiratory arrest ORPHA:34587
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Ulcerative c... ORPHA:171
Acute Interstitial Pneumonia
Pulmonary infiltrates, Hypoxemia, Crackles, Tachypnea, Hypertension, Nodular pattern on pulmonary... ORPHA:79126
Colorectal polyposis, Gastrointestinal hemorrhage, Neoplasm of the adrenal gland, Multiple intest... ORPHA:251992
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Complete Atrioventricular Septal Defect
Crackles, Tachypnea, Left-to-right shunt, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Follicular hyperplasia, Mediastinal lymphadenopathy, ... ORPHA:60026
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Arterial intimal fibrosi... OMIM:178600
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Reduced forced expiratory volume in one sec... OMIM:219700
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Squamous cell carcinoma, Melanoma, Brain neoplasm, Breast carcinoma, Adenoca... ORPHA:79501
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Pulmonary infiltrates, Uveitis, Hypoxemia, Iridocyclitis, Abnormal pulmonary inters... OMIM:181000
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Bilateral lung agenesis, Coarctation of aorta, Respiratory insufficienc... OMIM:601612
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent respir... OMIM:618495
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Patent foramen ovale, Tracheomalacia, Gastroesophageal reflux, Rectal prolapse, Pylori... OMIM:613177
Endocardial Fibroelastosis
Endocardial fibroelastosis, Cardiomyopathy, Congestive heart failure OMIM:226000
Adenocarcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolapse, Abdominal pain, Ne... ORPHA:424016
Classic Multiminicore Myopathy
High palate, Restrictive ventilatory defect, Right ventricular hypertrophy, Congenital muscular d... ORPHA:324604
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Respiratory failure requir... ORPHA:555874
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypn... ORPHA:217563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Flexion contracture, Pneumonia, Ske... OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 28
Reduced ejection fraction, Apical hypertrophic cardiomyopathy, Sudden cardiac death, Systolic ant... OMIM:619402
Cutis Laxa, Autosomal Dominant 1
Emphysema, Mitral regurgitation, Aortic regurgitation OMIM:123700
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Constrictive pericarditis, Leukocytosis, Abnormal pericardium morphology, Lung a... ORPHA:67
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial fibrillation, Cardiomegaly, Holosystolic murmur, Arrhythmia, Com... ORPHA:1677
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea, Leukocytosis, Anemia OMIM:619398
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pleural thickening, Decreased eosinophil count, Asthma, Bronchiectasis, Pulmonar... OMIM:619632
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Perching Syndrome
High palate, Flexion contracture, Feeding difficulties, Dysphagia, Respiratory distress, Camptoda... OMIM:617055
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Dyspnea, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myo... OMIM:613873
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis OMIM:604571
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine, Recurrent respiratory infe... OMIM:615767
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:606685
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:604765
Cardiomyopathy, Dilated, 1U
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Syncope, Dilated cardiomyopathy, Congestive heart failure OMIM:613697
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Large intestina... ORPHA:247798
Pseudomyxoma Peritonei
Constipation, Inflammation of the large intestine, Nausea and vomiting, Abdominal pain, Abnormali... ORPHA:26790
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Thyroid adenoma, Fibroma, Papilloma, Adenocarcinoma of the colon, Uterine l... ORPHA:220460
Netherton Syndrome
Emphysema, Asthma, Eczema, Recurrent respiratory infections, Erythroderma, Malabsorption, Skin rash ORPHA:634
Emphysema, Chylothorax, Renal angiomyolipoma, Restrictive ventilatory defect, Renal neoplasm, Gas... ORPHA:538
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Gastroesophageal reflux, Splenomegaly, Pleural effusion, Pulmonic steno... ORPHA:2414
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Edema of the dorsum of feet, D... ORPHA:275766
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Interface hepatitis, Autoimmune hemolytic anemia, Intestinal atresia, Ventricular septal defect, ... OMIM:243150
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Brain neoplasm, Neoplasm of the rectum, Adenocarcinoma of the colon, Breast... ORPHA:447877
Immunodeficiency 14B, Autosomal Recessive
Recurrent pneumonia, Leukocytosis, Monocytosis, Thrombocytosis, Colitis, Neutrophilia, Chronic di... OMIM:619281
Meconium Aspiration Syndrome
Hypoxemia, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyx... ORPHA:70588
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Bronchiectasis, Inflammation of the large intestine, Recurrent respiratory inf... OMIM:618108
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Patent ductus arteriosus, Gastroesophageal reflux, Pulmonary arterial hypertension, ... OMIM:613623
Mismatch Repair Cancer Syndrome 1
Plexiform neurofibroma, Non-Hodgkin lymphoma, Neuroblastoma, Rhabdomyosarcoma, Leukemia, Lymphoma... OMIM:276300
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Aortic root aneurysm, Descend... ORPHA:229
Congenital Diaphragmatic Hernia
Hypoxemia, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the dia... ORPHA:2140
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Chronic diarrhea, Bronchiectasis, Eczematoid ... OMIM:242700
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Respiratory failure... OMIM:263000
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Loeys-Dietz Syndrome 4
Emphysema, High palate, Bifid uvula, Broad uvula, Aortic root aneurysm, Aortic dissection, High, ... OMIM:614816
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced ejection fraction OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 7
Atrial fibrillation, Cardiomyopathy, Ventricular hypertrophy OMIM:613690
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Feeding difficulties in infancy, Diffuse alveolar hemorrhage, Splenomegaly, Anemia,... OMIM:616050
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Recurrent pneumonia, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sple... OMIM:618935
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
Inflammatory Bowel Disease 25, Autosomal Recessive
Rectovaginal fistula, Pancolitis, Recurrent bronchitis, Enterocutaneous fistula, Enterocolitis, P... OMIM:612567
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Coronary Arterial Fistula
Tachypnea, Coronary artery aneurysm, Pedal edema, Cardiomegaly, Patent foramen ovale, Patent duct... ORPHA:2041
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Respiratory failure, Paroxysmal dyspnea... ORPHA:444013
Diarrhea 8, Secretory Sodium, Congenital
Elevated fecal sodium, Secretory diarrhea, Abdominal distention, Inflammation of the large intestine OMIM:616868
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Abnormal skeletal muscle morphology, Tracheoesophageal fistula, Cou... ORPHA:142
Immunodeficiency 70
Achalasia, Colitis, Decreased proportion of CD4-positive helper T cells, Verrucae, Recurrent sinu... OMIM:618969
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Cardiac arrest, Tachypnea, Respiratory failure, Respiratory tract infection... ORPHA:70587
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Recurrent otitis media, Uveitis, Lymphoma, Chronic neutropenia, Autoimmune hemolyti... OMIM:614700
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Thrombocytosis, Colitis, ... OMIM:604416
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Decreased body weight, Respiratory insufficiency due to muscle weakness, ... OMIM:300580
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Honeycomb lung, Pulmonary insuff... ORPHA:2032
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphoma, Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasi... ORPHA:911
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Erysipelas, Joint contracture of the hand, Atrial septal defect, Cry... OMIM:235510
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer ORPHA:401911
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Recurrent aphthous stomatitis, Recurrent sinusitis, Perioral eczema, Diarrhea OMIM:613960
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Emphysema, Feeding difficulties in infancy, Respiratory insufficiency, Anemia ORPHA:436
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Exertional dyspnea, Right ventricular hypertrophy, Syncope, Angi... OMIM:265400
Blue Rubber Bleb Nevus
Abnormality of the liver, Intussusception, Rectal prolapse, Hemangioma, Cerebellar medulloblastom... OMIM:112200
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Feeding difficulties, Myopathy, Cardiomyopathy, Dysphagia, Supraventricular tachycardia, Respirat... OMIM:255100
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Pulmonary infiltrates, Nausea, Gastrointestinal hemorrhage, Hematemesis, Hepatitis, Pancreatitis,... ORPHA:73263
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Lower limb muscle weakness, Macroglossia, Dysphagia, Cardiomegaly, Left ve... ORPHA:365
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Hypertension, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Fabry Disease
Bundle branch block, Abnormal aortic valve morphology, Telangiectasia of the skin, Anemia, Hypert... ORPHA:324
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Gastroesophageal reflux, Hyper... OMIM:201475
Nemaline Myopathy 11, Autosomal Recessive
High palate, Nemaline bodies, Cardiomyopathy, Reduced vital capacity, Facial palsy, Scapular winging OMIM:617336
Idiopathic Hypereosinophilic Syndrome
Pulmonary infiltrates, Cholangitis, Chronic hepatitis, Anemia, Abdominal distention, Portal fibro... ORPHA:3260
Myasthenic Syndrome, Congenital, 6, Presynaptic
Poor suck, Type 2 muscle fiber atrophy, Respiratory insufficiency due to muscle weakness, Dysphag... OMIM:254210
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Poor suck, Feeding difficulties in infancy, Type 2 muscle fiber atrophy, Limb muscle weakness, Re... OMIM:605809
Linear Iga Dermatosis
Renal neoplasm, Bladder neoplasm, Epistaxis, Inflammation of the large intestine ORPHA:46488
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
High palate, Restrictive ventilatory defect, Muscle fiber necrosis, Gastroesophageal reflux, Incr... OMIM:614399
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis, Increased CD4:CD8 ratio, Impaired lymphocyte transfor... OMIM:617006
5-Oxoprolinase Deficiency
Abdominal pain, Enterocolitis, Diarrhea, Vomiting OMIM:260005
Cardiomegaly OMIM:227150
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Poor suck, High palate, Nasogastric tube feeding in infancy, Respiratory failure requiring assist... ORPHA:254864
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Interstitial emphysema, Inflammation of the large intestine, Bronchiectasis... OMIM:619708
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Pyelonephritis, Congestive heart failure, Small bowel diverticula... ORPHA:90349
Hermansky-Pudlak Syndrome 1
Hematochezia, Restrictive ventilatory defect, Colitis, Inflammation of the large intestine, Abdom... OMIM:203300
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, High palate, Nemaline bodies, Foot dorsiflexor weakness, ... ORPHA:399103
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Absence Of The Pulmonary Artery
Pedal edema, Atrial fibrillation, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Intussusception, Rectal prolapse, Abdominal pain, Anemia, Duodenal ad... OMIM:174900
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Peritonitis, Periodontitis, Res... ORPHA:2686
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Lymphadenitis, Air bronchogram, Rectal abscess, Splenomegaly, Pleural effusi... OMIM:306400
Juvenile Polyposis Of Infancy
Hemangioblastoma, Hematochezia, Subcutaneous lipoma, Gastrointestinal hemorrhage, Atrial septal d... ORPHA:79076
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Endocardial fibroelasto... OMIM:108770
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Left ventricular noncompaction, Abnormal left ventricle morphology, Abnor... OMIM:615373
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Small for gestational age, Hypertension, Respi... OMIM:616733
X-Linked Centronuclear Myopathy
Poor suck, High palate, Feeding difficulties in infancy, Necklace skeletal muscle fibers, Pneumon... ORPHA:596
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Pyoderma, Colitis, Enterocolitis, Perianal abscess, Folliculitis OMIM:613148
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:615248
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Fo... ORPHA:264675
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Peutz-Jeghers Syndrome
Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor, Breast carcinoma, Intussu... OMIM:175200
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Mitral regurgitation, Aortic root aneurysm, Congestive heart failure, Coronary artery ... ORPHA:363618
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Ascites, Bacterial endocarditis, Exertional dyspnea, Di... ORPHA:615
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Abnormal left ventricular function, Congestive hear... OMIM:605362
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Esophageal neoplasm, Gastrointestinal hemorrhage, Ascites, Gastroesophageal reflux, He... ORPHA:2198
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Left ventricular systolic dysfunction, Increased endomysial connecti... ORPHA:353
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Gastritis, Vomiting, Pancolitis, Chronic diarrhea, Abdominal pain, Abnormal inte... OMIM:619079
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Bloody diarrhea, Schistocytosis, Colonic stenosis, Leukocytosis, Peritoni... ORPHA:90038
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Feeding difficulties in infancy, High palate, Congestive heart failure, Increased variability in ... OMIM:618654
Synaptic Congenital Myasthenic Syndromes
Type 2 muscle fiber atrophy, High palate, Hypoventilation, Skeletal muscle atrophy, Sleep apnea, ... ORPHA:98915
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Arthritis, Colitis, Inflammation of the large intestine, Eczema, Neutropenia, Dysphagia, Chronic ... OMIM:608809
Neoplasm of the gastrointestinal tract, Neoplasia of the pleura, Myositis, Non-Hodgkin lymphoma, ... ORPHA:99867
Cocaine Intoxication
Intestinal perforation, Pulmonary infiltrates, Nausea, Tachypnea, Hypertension, Prolonged QRS com... ORPHA:90068
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Cholangitis, Colitis, Protracted d... OMIM:209920
Immunodeficiency 58
Recurrent aphthous stomatitis, Dysphagia, Esophagitis, Chronic mucocutaneous candidiasis, Recurre... OMIM:618131
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Feeding difficulties in infancy, Recurrent pneumonia, Skeletal muscle atrophy, Respiratory failur... ORPHA:254875
Idiopathic Pulmonary Hemosiderosis
Pulmonary infiltrates, Restrictive ventilatory defect, Hepatosplenomegaly, Reticular pattern on p... ORPHA:99931
Congenital Tracheal Stenosis
Preductal coarctation of the aorta, Hypoplastic left heart, Duodenal stenosis, Ventricular septal... ORPHA:141127
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618222
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Splenomegaly, Hepatomegaly, Dyspnea, Recurrent respira... OMIM:607616
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Airway obstruction, Hypoxemia, Reduce... ORPHA:1303
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic cardiomyopathy, Hepatomegaly, Rig... OMIM:115197
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Vascular tortuosity, Supravalvular aortic stenosis, Congenital diaphragmatic hernia, R... OMIM:219100
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Neonatal Marfan Syndrome
Emphysema, Flexion contracture, Hypoxemia, Small for gestational age, Aortic root aneurysm, Mitra... ORPHA:284979
Scleritis, Productive cough, Liver abscess, Keratitis, Conjunctivitis, Emphysema, Infectious ence... ORPHA:31204
Aortic Arch Interruption
Tachypnea, Right bundle branch block, Double outlet right ventricle, Single ventricle, Pedal edem... ORPHA:2299
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Emphysema, Exocrine pancreatic insufficiency, Recurrent pneumonia, Biliary cirrhosis, Biliary tra... OMIM:219721
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 20
Cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy OMIM:613876
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Ileal ulcer, Colitis, Thrombocytopenia, Hemolytic anemia, Anterior uveitis, Lymphopenia, Skin rash OMIM:616744
Mitochondrial Complex I Deficiency, Nuclear Type 13
Apnea, Hypertrophic cardiomyopathy OMIM:618235
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Congenital muscular dystrophy, Aspiration, Absent muscle fiber merosin, Macroglossia, Intercostal... ORPHA:258
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Hirschsprung Disease, Susceptibility To, 1
Abnormality of enteric ganglion morphology, Constipation, Aganglionic megacolon, Abdominal disten... OMIM:142623
Microcephaly-Capillary Malformation Syndrome
Patent foramen ovale, Small for gestational age, Atrial septal defect, Failure to thrive, Ventric... OMIM:614261
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Diarrhea OMIM:269840
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Alpha-B Crystallin-Related Late-Onset Myopathy
Foot dorsiflexor weakness, Limb-girdle muscle weakness, Increased variability in muscle fiber dia... ORPHA:399058
Abnormal respiratory system physiology, Sinusitis, Apical pulmonary opacity, Abnormal jejunum mor... ORPHA:449280
Intestinal perforation, Nausea, Hepatic failure, Uveitis, Cholestasis, Bloody mucoid diarrhea, Te... ORPHA:810
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Hepatic failure, Flexion contracture, Hepatosplenomegaly, Portal hyperten... ORPHA:367
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Respiratory insufficiency, Cardiomyopathy, Arrhythmia OMIM:612999
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Recurrent otitis media, Bronchiolitis, Respiratory distress OMIM:615993
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Timothy Syndrome
Tetralogy of Fallot, Pneumonia, Patent foramen ovale, Patent ductus arteriosus, Prolonged QT inte... OMIM:601005
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Absent gallbladder, Atrial septal defect, Intestinal malrotation, Tracheoeso... ORPHA:210122
Pulmonary infiltrates, Hepatitis, Diffuse reticular or finely nodular infiltrations, Keratitis, I... ORPHA:1163
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Otitis media, Lymphadenopathy, ... OMIM:608971
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Pulmonary infiltrates, Abnormal nasopharyngeal adenoid morphology, Pneumonia, Erythema nodosum, L... ORPHA:3392
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Gastrointestinal dysmotility, Macroglossia, Ventricular septal defec... ORPHA:363705
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Immunodeficiency 37
Colitis, Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious ence... OMIM:616098
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Ventri... ORPHA:1166
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Recurrent aphthous stomatitis, Inflammation of the large intestine, Abdominal pa... OMIM:266600
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, B-cell lymphoma, Lymphadenopathy ORPHA:52416
American Trypanosomiasis
Abnormal large intestine physiology, Achalasia, Arrhythmia, Congestive heart failure, Infectious ... ORPHA:3386
Pfapa Syndrome
Infectious encephalitis, Splenomegaly, Hepatomegaly, Nausea and vomiting, Abdominal pain, Malabso... ORPHA:42642
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Parench... ORPHA:36238
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Failure to thrive, Myopathy, Respiratory distress, Low-output conges... ORPHA:91130
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Situs inversus totalis, Bronchiectasis, Recurrent br... OMIM:244400
Li-Fraumeni Syndrome
Central primitive neuroectodermal tumor, Neoplasm of the gastrointestinal tract, Colon cancer, Ly... ORPHA:524
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Familial Thoracic Aortic Aneurysm And Aortic Dissection
High, narrow palate, Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Aortic regurgit... ORPHA:91387
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Myopathy, X-Linked, With Postural Muscle Atrophy
Respiratory insufficiency, Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Mitochondrial Complex I Deficiency, Nuclear Type 22
Respiratory insufficiency, Hypertrophic cardiomyopathy OMIM:618243
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Wolff-Parkinson-White syndr... ORPHA:45453
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Feeding difficulties in infancy, Respiratory failure requiring assisted ventilation, Shortened PR... ORPHA:308552
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Nasogastric tube feeding in infancy, Respiratory failure requiring assisted ventilation, Lower li... ORPHA:90117
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Respiratory dis... OMIM:617300
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:63273
Trichohepatoenteric Syndrome 2
Colitis, Hepatomegaly, Hepatitis, Villous atrophy, Cirrhosis, Diarrhea OMIM:614602
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Pancytopenia, Cirrhosis, Reticular pattern on pulmonary HRCT, Bone marrow hypocellularity, Gastro... OMIM:614742
Hypoglossia With Situs Inversus
High palate, Feeding difficulties in infancy, Situs inversus totalis, Microglossia, Upper airway ... OMIM:612776
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Anisocytosis, Hepatocellular necrosis, Chronic hemolytic anemia, Ventricular hypertrop... OMIM:618278
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Ventricular septal defect, Inflammatory abnormality of the skin, Ventricular fibrillat... ORPHA:26793
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Esophageal Atresia
Aspiration, Gastrointestinal dysmotility, Anorectal anomaly, Dysphagia, Ventricular septal defect... ORPHA:1199
Cryptogenic Organizing Pneumonia
Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxemia, Leuko... ORPHA:1302
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Abnormal coronary artery morphology, Ventr... ORPHA:3400
Cardiomyopathy, Familial Hypertrophic, 13
Ventricular fibrillation, Left anterior fascicular block, Biventricular hypertrophy, Hypertrophic... OMIM:613243
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Failure to thrive, Ventricular septal defect, Arthrogryposis multiplex cong... OMIM:208085
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cardiomyopathy OMIM:225740
Gastrointestinal hemorrhage, Constipation, Abnormal mitral valve morphology, Abnormal pulmonary i... ORPHA:732
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Eosinophilic liver infiltration, Asthma, Colonic eosinophilia, ... OMIM:618999
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Colon cancer, Carcinoma, Breast carcinoma,... OMIM:158320
Blackfan-Diamond Anemia
Ventricular septal defect, Malignant genitourinary tract tumor, Persistence of hemoglobin F, Thro... ORPHA:124
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary arterial hypertension, Centrilobular ground-glass opaci... OMIM:265450
Acute Lung Injury
Pulmonary infiltrates, Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tac... ORPHA:178320
Short-Rib Thoracic Dysplasia 12
Patent foramen ovale, Periportal fibrosis, Intestinal malrotation, Lobulated tongue, Protuberant ... OMIM:269860
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Cholestasis, Bile duct proliferation, Tachypnea, Anemia, Ascites, Abnormal pulmonar... OMIM:613658
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis, Bronchiolitis OMIM:614878
Autoimmune Lymphoproliferative Syndrome
Pulmonary infiltrates, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive... ORPHA:3261
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy OMIM:608099
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Recurrent upper respiratory tract infections, Arthritis, Autoimmune hemolytic an... OMIM:616100
Lethal Osteosclerotic Bone Dysplasia
Gingival fibromatosis, Respiratory failure, Dyspnea, Respiratory distress, Median cleft lip and p... ORPHA:1832
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Myopathy, Cardiomyopathy, Respiratory distress ORPHA:26792
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy OMIM:617184
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Hepatitis, Oropharyngeal squamous cell carcinoma, Villous atrophy, I... ORPHA:391487
Myotubular Myopathy With Abnormal Genital Development
High palate, Unilateral cryptorchidism, Feeding difficulties, Atelectasis, Myopathy, Respiratory ... OMIM:300219
Eosinophilic Granulomatosis With Polyangiitis
Pulmonary infiltrates, Abnormal pericardium morphology, Hypertension, Dysphagia, Skin rash, Conge... ORPHA:183
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Patent ductus arteriosus, Thoracic aortic aneurysm, Descendin... OMIM:132900
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Cholestasis, Constipation, Vomiting, Aganglionic megacolon, Abnorma... ORPHA:95427
Sepsis In Premature Infants
Abnormal respiratory system physiology, Gastrointestinal dysmotility, Anemia, Abdominal distentio... ORPHA:90051
Neurogenic Arthrogryposis Multiplex Congenita
Flexion contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle flexion contractu... ORPHA:1143
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Coproporphyria, Hereditary
Constipation, Splenomegaly, Hepatomegaly, Jaundice, Abdominal pain, Respiratory paralysis, Hypert... OMIM:121300
Marfan Syndrome
Emphysema, Spontaneous pneumothorax, Skeletal muscle atrophy, Descending aortic dissection, Slend... ORPHA:558
Relapsing Polychondritis
Uveitis, Scleritis, Abnormal aortic valve morphology, Abnormal pattern of respiration, Episclerit... ORPHA:728
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Abnormal left ventricular function, Arrhyth... ORPHA:45452
Transaldolase Deficiency
Abnormal respiratory system physiology, Hepatosplenomegaly, Atrial septal defect, Biventricular h... ORPHA:101028
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Respiratory distress OMIM:604377
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Farber Disease
Cherry red spot of the macula, Recurrent upper respiratory tract infections, Hepatosplenomegaly, ... ORPHA:333
Adult-Onset Nemaline Myopathy
High palate, Dilated cardiomyopathy, Nemaline bodies, Flexion contracture, Lower limb muscle weak... ORPHA:171442
Adams-Oliver Syndrome 5
Right atrial enlargement, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Pulmonary arteri... OMIM:616028
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Colon cancer, Anemia, Neoplasm of the lung, Hodgkin lymphoma, Thro... ORPHA:158057
Viss Syndrome
Bifid uvula, Carotid artery tortuosity, Double outlet right ventricle, Macroglossia, High, narrow... OMIM:619472
Dubowitz Syndrome
High palate, Anal stenosis, Asthma, Lymphoma, Cryptorchidism, Chronic diarrhea, Neoplasm, Rectal ... ORPHA:235
Eosinophilia, Familial
Pulmonary infiltrates, Myocardial eosinophilic infiltration, Recurrent bronchitis OMIM:131400
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Abnormal respiratory system physiology, Tachypnea, Right bundle branch ... ORPHA:99106
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Severe X-Linked Mitochondrial Encephalomyopathy
Feeding difficulties in infancy, Skeletal muscle atrophy, Increased variability in muscle fiber d... ORPHA:238329
Ciliary Dyskinesia, Primary, 2
Sinusitis, Immotile cilia, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:606763
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, ... OMIM:178550
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Syndromic Diarrhea
Hepatoblastoma, Ventricular septal defect, Villous atrophy, Hypoplasia of the thymus, Lymphopenia... ORPHA:84064
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Respiratory insufficiency ORPHA:139406
Keutel Syndrome
Emphysema, Sinusitis, Airway obstruction, Pulmonary artery hypoplasia, Peripheral pulmonary arter... OMIM:245150
Fanconi Anemia, Complementation Group O
Cryptorchidism, Abnormal heart morphology, Rectal atresia, Anal atresia OMIM:613390
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Left-to-right shunt, Right bundle branch block, Atrial fibrillation... ORPHA:99105
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Lymphoma, Cough, Eczema, Recurrent respiratory infections, Osteomyelitis, Atelectas... ORPHA:2314
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy OMIM:615184
Meier-Gorlin Syndrome 4
Emphysema, Feeding difficulties, Cryptorchidism, Breast hypoplasia OMIM:613804
Alpha-Heavy Chain Disease
Lymphoma, Splenomegaly, Hepatomegaly, Abnormality of the small intestine, Abdominal pain, Anemia,... ORPHA:100025
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Ped... ORPHA:563
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Failure to thrive, Ventricular septal defect, Arthrogryposis multiplex congenita, Right ventricul... OMIM:613404
Reactive Arthritis
Aortic regurgitation, Arthritis, Abnormal pleura morphology, Conjunctivitis, Recurrent aphthous s... ORPHA:29207
Apc-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Adrenocortical carcinoma, Osteoma, Lipoma, Pilomatrixoma, Adenomatous colonic polyp... ORPHA:247806
Epistaxis, Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Constipation, Infectious ence... ORPHA:99745
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Restrictive ventilatory defect, Hepatosplenomegaly, Portal hypertension, Bone marrow hypocellular... ORPHA:210136
Diffuse Cutaneous Systemic Sclerosis
Pulmonary infiltrates, Flexion contracture, Congestive heart failure, Abnormal bowel sounds, Gast... ORPHA:220393
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Nausea, Hypertension, Pancreatitis, Thrombocytopenia, Diarrhea, Bloody di... ORPHA:544482
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Nausea, Maculopapular exanthema, Crackles, Dysphagia, Lymphopenia, Th... ORPHA:319213
Familial Adenomatous Polyposis
Hepatoblastoma, Neoplasm of the gastrointestinal tract, Colon cancer, Osteoma, Neoplasm of the ga... ORPHA:733
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Neoplasm, Dyspnea, Chronic ... ORPHA:140896
Gne Myopathy
Lower limb amyotrophy, Foot dorsiflexor weakness, Weakness of long finger extensor muscles, Lower... ORPHA:602
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Respiratory insufficiency, Cardiomyopathy, Global systolic dysfunction, Dyspnea OMIM:606842
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Feeding difficulties, Splenomegaly, Hepatomegaly, Neutropenia, Abdominal pain, Nausea a... ORPHA:79312
Chronic Thromboembolic Pulmonary Hypertension
Right atrial enlargement, Increased pulmonary vascular resistance, Central sleep apnea, Right bun... ORPHA:70591
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Respira... OMIM:601419
Toxic Epidermal Necrolysis
Intestinal perforation, Abnormal myocardium morphology, Restrictive ventilatory defect, Gastroint... ORPHA:537
Double Outlet Right Ventricle
Tetralogy of Fallot, Intestinal malrotation, Tachypnea, Double outlet right ventricle, Pulmonic s... ORPHA:3426
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
X-Linked Lymphoproliferative Disease
Pancytopenia, Hepatic failure, Absent natural killer cells, Histiocytosis, Increased T cell count... ORPHA:2442
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Azoospermia, Telangiectasia, Splenomegaly, Pl... OMIM:235200
Hepatic failure, Uveitis, Increased T cell count, Maculopapular exanthema, Anemia, Thrombocytopen... ORPHA:797
Immunodeficiency 82 With Systemic Inflammation
Recurrent otitis media, Anemia, Hepatitis, Villous atrophy, Diarrhea, Bronchitis, Skin rash, Redu... OMIM:619381
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Primary Effusion Lymphoma
Pleural effusion, B-cell lymphoma, Dyspnea, Abdominal pain, Abdominal distention, Abnormality of ... ORPHA:48686
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced ejection fraction, Lower limb muscle weakness, P... ORPHA:268
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Atrial fibrillation, Congestive heart failure OMIM:614672
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Childhood-Onset Nemaline Myopathy
High palate, Nemaline bodies, Scapular winging, Flexion contracture, Increased variability in mus... ORPHA:171439
Infantile-Onset X-Linked Spinal Muscular Atrophy
Poor suck, High palate, Inflammatory myopathy, Skeletal muscle atrophy, Cryptorchidism, Spinal mu... ORPHA:1145
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Inflammatory Bowel Disease 11
Hematochezia, Abdominal pain, Diarrhea, Inflammation of the large intestine OMIM:191390
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal lung lobation, High, narrow palate, Ventricular septal defect, Truncus arteriosus, Abnor... ORPHA:2516
Meier-Gorlin Syndrome 6
Emphysema, Cryptorchidism, Gastroesophageal reflux, Feeding difficulties, Recurrent respiratory i... OMIM:616835
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates, Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Res... OMIM:607685
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Congenital Fibrinogen Deficiency
Volvulus, Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Internal hemo... ORPHA:335
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Hematochezia, Abdominal distention, Enterocolitis, Ulcerative colitis OMIM:226150
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhag... ORPHA:2137
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Atrial septal defect, Abnormal aortic ... ORPHA:1120
Cutis Laxa, Autosomal Recessive, Type Ib
Emphysema, High palate, Pulmonary insufficiency, Generalized arterial tortuosity, Pulmonary arter... OMIM:614437
Myopathy, Myosin Storage, Autosomal Recessive
High palate, Dilated cardiomyopathy, Congestive heart failure, Scapuloperoneal amyotrophy, Hypert... OMIM:255160
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Abdominal pain, Cardiomyopathy, Hypertension, Pericard... ORPHA:767
Ehlers-Danlos Syndrome, Vascular Type
Emphysema, Ascending aortic dissection, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hem... OMIM:130050
Muscular Dystrophy, Becker Type
Abnormal EKG, Cardiomyopathy, Arrhythmia OMIM:300376
Avian Influenza
Pulmonary infiltrates, Hypoxemia, Tachypnea, Productive cough, Hepatitis, Lymphopenia, Conjunctiv... ORPHA:454836
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Pulmonary hypoplasia OMIM:614096
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Immunodeficiency 87 And Autoimmunity
Hepatic failure, Cholestasis, Autoimmune hemolytic anemia, Third degree atrioventricular block, H... OMIM:619573
Cardiac Diverticulum
Tricuspid atresia, Pulmonary artery hypoplasia, Diastasis recti, Premature ventricular contractio... ORPHA:1686
Waardenburg Syndrome Type 3
Atrial septal defect, Tracheomalacia, Atelectasis ORPHA:896
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Hypoplastic left heart, Dysphagia, Bradycardia, Respiratory insuffic... OMIM:616276
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness ORPHA:240085
Pulmonary Alveolar Microlithiasis
Pulmonary infiltrates, Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis,... ORPHA:60025
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis OMIM:301220
Pericardial And Diaphragmatic Defect
Morphological abnormality of the gastrointestinal tract, Tetralogy of Fallot, Hypoxemia, Atrial s... ORPHA:2847
Brown-Vialetto-Van Laere Syndrome 1
Tongue atrophy, Hand muscle atrophy, Nocturnal hypoventilation, Respiratory insufficiency, Dyspne... OMIM:211530
Meckel Syndrome, Type 7
Hepatosplenomegaly, Portal hypertension, Patent ductus arteriosus, Atrial septal defect, Situs in... OMIM:267010
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Diverticulosis, Small-Intestinal
Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverticula, Ulcerative colit... OMIM:223320
Juvenile Idiopathic Arthritis
Uveitis, Abnormal pleura morphology, Splenomegaly, Hepatomegaly, Abdominal pain, Malabsorption, P... ORPHA:92
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Patent foramen ovale, Hypoxemia, Congestive heart failure, Atrial septa... ORPHA:439
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Flexion contracture, Muscle fiber splitting, Muscular dystrophy, Dyspnea, Dysphagia, Facial palsy... OMIM:603511
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Chronic Granulomatous Disease
Sinusitis, Inflammatory abnormality of the eye, Tracheoesophageal fistula, Splenomegaly, Hepatome... ORPHA:379
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, R... ORPHA:444463
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Right ventricular dilatation, Wolff-Parkinson-White syndrome, Hypertrophic cardi... OMIM:619705
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Hepatomegaly, Jaundice, Malabsorption, Biliary tract a... ORPHA:79301
Immunodeficiency 27A
Pulmonary infiltrates, Pneumonia, Hepatosplenomegaly, Histiocytosis, Leukocytosis, Thrombocytosis... OMIM:209950
Ellis Van Creveld Syndrome
Emphysema, Abnormal heart valve morphology, Aplasia/Hypoplasia of the lungs, Atrial septal defect... ORPHA:289
Glycogen Storage Disease Ii
Shortened PR interval, Firm muscles, Wolff-Parkinson-White syndrome, Splenomegaly, Hepatomegaly, ... OMIM:232300
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Atrial septal defect, Splenomegaly, Chronic diarrhea, Hepatomegaly, In... OMIM:614576
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... ORPHA:199241
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Dextrocardia, Rhinorrhea, Situs inversus totalis, Bronchiectasis, Right aortic ... OMIM:617577
Thyroid Lymphoma
Hashimoto thyroiditis, Lymphoma, Dyspnea, Stridor, Upper airway obstruction, Dysphagia, Respirato... ORPHA:97285
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Crescentic glome... OMIM:616414
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen, Patent foramen ovale, Atrial septal defect, Feeding difficulties, Dysphagia, ... ORPHA:89844
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Polyhydramnios, Ventricular septal defect, ... ORPHA:3405
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Colon cancer, Adrenocortical carci... OMIM:175100
Autosomal Dominant Cutis Laxa
Emphysema, Pyelonephritis, Bronchiolitis, Aortic regurgitation, Congestive heart failure, Small b... ORPHA:90348
Marfan Syndrome
Emphysema, High palate, Flexion contracture, Mitral regurgitation, Aortic regurgitation, Aortic r... OMIM:154700
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Abnormality of the gastrointestinal tract, Respiratory failure, Decreased liver function, Chronic... ORPHA:79327
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Lymphoma, Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Splenomeg... OMIM:300853
Nipah Virus Disease
Infectious encephalitis, Anorexia, Cough, Hypotension, Nausea and vomiting, Respiratory distress,... ORPHA:99825
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Splenomegaly, Hepatomegaly, Neoplasm, Jaundice, Malabsorption ORPHA:172
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Legionnaires Disease
Pulmonary infiltrates, Hepatitis, Pancreatitis, Lymphopenia, Diarrhea, Arrhythmia, Infectious enc... ORPHA:549
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
High palate, Rectovestibular fistula, Patent foramen ovale, Patent ductus arteriosus, Aortic root... ORPHA:280633
Gaucher Disease, Type Ii
Protuberant abdomen, Feeding difficulties, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, ... OMIM:230900
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Congestive heart failure, Pulmonary embolism, Hypert... ORPHA:1345
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Dilated cardiomyopathy, Interstitial cardiac fibrosis, Patent foramen o... OMIM:619371
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Colitis, Maculopapular exanthema, Infectious encephalitis, Decreased liver func... ORPHA:540
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Arterial Tortuosity Syndrome
Cardiac arrest, Telangiectasia of the skin, Cardiorespiratory arrest, Hypertension, Arterial sten... ORPHA:3342
Congenital Disorder Of Glycosylation, Type Ie
Muscular dystrophy, Splenomegaly, Ankle flexion contracture, High, narrow palate, Knee flexion co... OMIM:608799
Developmental And Epileptic Encephalopathy 30
Feeding difficulties, Respiratory distress OMIM:616341
Atrial Standstill
Atrial standstill, Left ventricular noncompaction, Ventricular tachycardia, Arrhythmia, Congestiv... ORPHA:1344
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Achilles tendon contracture, Skeletal muscle atrophy, Wo... OMIM:619566
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Cardiomyopathy ORPHA:254857
Meier-Gorlin Syndrome 1
Emphysema, High palate, Feeding difficulties in infancy, Flexion contracture, Cryptorchidism, Gas... OMIM:224690
Dilated cardiomyopathy OMIM:251220
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Feeding difficulties in infancy, Leukopenia, Abnormal left ventricular function, Cryptorchidism, ... OMIM:301056
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Congenital Total Pulmonary Venous Return Anomaly
Respiratory failure requiring assisted ventilation, Apneic episodes in infancy, Mixed total anoma... ORPHA:99125
Radiation Proctitis
Hematochezia, Rectal fistula, Rectal abscess, Abnormality of gastrointestinal vasculature, Arteri... ORPHA:70475
Myopathy And Diabetes Mellitus
Achilles tendon contracture, Skeletal myopathy, Sternocleidomastoid amyotrophy, Weakness of orbic... ORPHA:2596
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Hematemesis, Diarrhea, Glossitis, Acute infectious pneumonia, Skin rash, Bloody diarrhea, Arrhyth... ORPHA:707
Whipple Disease
Myositis, Uveitis, Gastrointestinal hemorrhage, Arthritis, Infectious encephalitis, Myocarditis, ... ORPHA:3452