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Gene: Ltbp4 MGI:1321395

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Gene Summary

Name:
latent transforming growth factor beta binding protein 4
Synonyms:
2310046A13Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
enlarged spleen Ltbp4em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Ltbp4em1(IMPC)Tcp HOM Early adult 0.00

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Viewing: all phenotypes
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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.

Gross Pathology and Tissue Collection

Images

9 Images

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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
phenotypes		 Matching phenotypes Source
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Morgagni diaphragmatic hernia, Atelectasis... OMIM:613177
Duchenne Muscular Dystrophy
Cardiomyopathy, Respiratory insufficiency ORPHA:98896

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruct... OMIM:613490
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Bronchogenic Cyst
Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneu... ORPHA:2357
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Lymphadenopathy,... ORPHA:424019
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Productive cough... ORPHA:60033
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Pneumoth... OMIM:612387
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology OMIM:614100
Ficolin 3 Deficiency
Verrucae, Recurrent lower respiratory tract infections, Necrotizing enterocolitis OMIM:613860
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocy... OMIM:619164
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Limb-girdle muscle weakness, Achilles... ORPHA:254361
Cutis Laxa-Marfanoid Syndrome
Emphysema, Abnormal heart valve morphology ORPHA:171719
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,... ORPHA:95430
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Birt-Hogg-Dubé Syndrome
Pneumothorax, Multiple lipomas, Renal cell carcinoma, Pulmonary sequestration, Parathyroid adenom... ORPHA:122
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a... ORPHA:244
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... OMIM:613101
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Crackles,... ORPHA:2902
Pleural Mesothelioma
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... ORPHA:50251
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent sk... OMIM:300635
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Nasogastric tube feeding in infancy, Dyspnea, Upper airway obstruction, Cle... ORPHA:141152
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Gastroesophageal reflux, Vomiting, Cough, Hilar lymph node enlargement, Hepatomegaly, T... OMIM:620233
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Hypocomplementemic Urticarial Vasculitis
Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Abdominal pain, Pericardial effusion, Ly... ORPHA:36412
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,... OMIM:610978
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... ORPHA:209964
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest ORPHA:34587
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Gaucher Disease Type 2
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple... ORPHA:77260
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Burkitt lymphoma, Disseminated cutaneous warts OMIM:618307
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastr... ORPHA:1572
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Congenital Gerbode Defect
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... ORPHA:99095
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure ORPHA:60
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Central hypoventilation, Neoplasm... ORPHA:251992
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... ORPHA:171
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Chronic diarrhea,... OMIM:616433
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H... OMIM:219700
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Asthma, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Atopic der... OMIM:617638
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Morgagni diaphragmatic hernia, Atelectasis... OMIM:613177
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Reduced left ventricul... OMIM:620236
Pulmonary Nodular Lymphoid Hyperplasia
Nodular pattern on pulmonary HRCT, Ground-glass opacification, Follicular hyperplasia, Mediastina... ORPHA:60026
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ... ORPHA:63273
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Tricuspid Atresia
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... ORPHA:1209
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Sarcoidosis, Susceptibility To, 1
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy... OMIM:181000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Cardiomegaly ORPHA:88643
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Mucoid diarrhea, Decreased proportion of class-switched memory ... OMIM:615767
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... OMIM:612877
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Restrictive Dermopathy 2
Respiratory distress, Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small ... ORPHA:555874
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Asthma, Erythroderma, Emphysema ORPHA:634
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... ORPHA:70587
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Lung abscess, Liver abscess, Abnormal pericardium morphology, Abdominal p... ORPHA:67
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R... OMIM:620321
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio... OMIM:618052
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven... OMIM:253700
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... OMIM:608971
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in in... OMIM:616050
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal neoplasm, Ungual fibroma, Re... ORPHA:538
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... OMIM:619281
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasi... OMIM:618108
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... ORPHA:1802
Loeys-Dietz Syndrome 4
Torticollis, Broad uvula, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arte... OMIM:614816
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Ground-glass opacification, ... OMIM:619773
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... ORPHA:2140
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypopla... ORPHA:185
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic diarrh... OMIM:242700
Familial Aortic Dissection
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... ORPHA:229
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Hepatomegaly, Pso... ORPHA:436159
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Immunodeficiency 70
Furuncle, Celiac disease, Colitis, B lymphocytopenia, Recurrent sinusitis, Decreased proportion o... OMIM:618969
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp... ORPHA:26790
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn... OMIM:619632
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Whim Syndrome
Abnormal small intestine morphology, Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Res... ORPHA:51636
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:306400
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal inf... ORPHA:73263
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Uveitis, Inflammation of the la... OMIM:614700
Anaplastic Thyroid Carcinoma
Respiratory distress, Neoplasm of the skeletal system, Cough, Dyspnea, Tracheoesophageal fistula,... ORPHA:142
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Abnormal lung lobation, Atrial sep... OMIM:265380
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Knee flexion contracture, Hepat... OMIM:604416
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... OMIM:619802
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Emphysema, Ac... ORPHA:324
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Sple... OMIM:618935
Hypophosphatasia
Feeding difficulties in infancy, Emphysema, Respiratory insufficiency, Anemia ORPHA:436
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... ORPHA:2041
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Unilateral cryptorchidism, Centrally nucleated skeletal muscle fibers, Bila... OMIM:300219
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Abnormal jugular vein morphology, Tricuspid regurgitation, Increased... ORPHA:275766
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Hemangiom... OMIM:112200
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Hepatomegaly, Sudden cardiac death, C... OMIM:201475
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Fanconi Renotubular Syndrome 5
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma OMIM:618913
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Increased CD4:CD8 ratio, Min... OMIM:617006
Ethanolaminosis
Cardiomegaly OMIM:227150
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar... ORPHA:3260
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the large intes... OMIM:619708
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven... ORPHA:258
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Polyhydramnios, Respiratory insufficiency due to muscle weakn... OMIM:300580
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Respiratory tract infec... ORPHA:2686
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Pneumothorax, Chronic pu... ORPHA:411703
Cystic Fibrosis
Recurrent respiratory infections, Sinusitis, Meconium ileus, Malabsorption, Reduced forced expira... ORPHA:586
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... ORPHA:2198
Hermansky-Pudlak Syndrome 1
Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of the large intestine, Col... OMIM:203300
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease OMIM:613148
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Abdominal pain, High, narrow palate, Rectal prola... ORPHA:79076
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Nasogastr... ORPHA:254864
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary art... OMIM:265400
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Absence Of The Pulmonary Artery
Abnormal pulmonary thoracic imaging finding, Abnormal coronary artery morphology, Cardiomegaly, N... ORPHA:980
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell carcinoma of... OMIM:620365
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Feeding difficulties in infancy, Respiratory insuffi... OMIM:605809
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... OMIM:175200
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Perching Syndrome
Respiratory distress, Dysphagia, Feeding difficulties, High palate, Camptodactyly, Joint contracture OMIM:617055
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm ORPHA:46488
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Flexion contracture, Hypertension, Pulmonary hyp... OMIM:616733
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... OMIM:614096
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Ciliary Dyskinesia, Primary, 1
Pneumonia, Situs inversus totalis, Atelectasis, Absent outer dynein arms, Asplenia, Bronchiectasi... OMIM:244400
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i... OMIM:209920
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Intracranial hemor... ORPHA:363618
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Hepatomegaly, Respiratory insufficiency due to muscle... OMIM:613561
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,... ORPHA:90038
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... ORPHA:397596
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Dyspnea, Congestive heart failure, Bronchiectasi... OMIM:123700
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Respiratory insufficiency, Feeding difficulties, Cardiomyop... OMIM:255100
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... ORPHA:2299
Relapsing Polychondritis
Large vessel vasculitis, Uveitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Atel... ORPHA:728
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p... OMIM:618131
Waardenburg Syndrome Type 3
Atrial septal defect, Atelectasis, Tracheomalacia ORPHA:896
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Feeding difficulties, Gastroesophageal reflux, Decreased liver function, Le... OMIM:616974
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Odynophagia, Fulminant hepatitis, Leukopenia... ORPHA:319213
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... ORPHA:90068
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Feeding diffic... OMIM:618654
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Neoplasm of head and neck, Pure red cell aplasia, ... ORPHA:99867
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Congenital diaphragmatic hernia, Supravalvular aortic stenosis,... OMIM:219100
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Crack... ORPHA:99931
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Congestive heart fa... ORPHA:615
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Nocardiosis
Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis... ORPHA:31204
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial ne... ORPHA:37042
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Pyloric stenosis, Congestive heart failure, Pneumothorax, ... ORPHA:90349
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Shigellosis
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... ORPHA:810
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Jejunal atresia, Apnea, Polyhydramnios, High, narrow palate, Narrow palate, Type 1 muscle fiber p... OMIM:612949
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle mus... ORPHA:86812
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung mo... ORPHA:141127
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, High, narrow p... ORPHA:284979
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Recurrent pharyngitis, Splenome... ORPHA:42642
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Feeding difficulties in i... ORPHA:254875
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Congestive hear... ORPHA:367
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Hip contracture, Necrotizing enterocolitis, Abdominal pain, Elbow flexion contracture, Knee flexi... OMIM:616809
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Ventricular septal defect, Intestinal malrotation, Hamartoma of tongue, Atelectasis... OMIM:269860
Tularemia
Respiratory distress, Tachycardia, Abnormal pulmonary thoracic imaging finding, Skin rash, Pneumo... ORPHA:3392
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Aorta Coarctation
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,... OMIM:618278
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn... ORPHA:91387
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn... ORPHA:399058
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, Ly... ORPHA:2314
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Tetralogy of Fallot, Respiratory insu... ORPHA:1166
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid... ORPHA:210122
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Left bund... OMIM:608758
Farber Disease
Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N... ORPHA:333
Rajab Interstitial Lung Disease With Brain Calcifications 1
Tachypnea, Gastroesophageal reflux, High palate, Vomiting, Cough, Emphysema, Hepatic steatosis, P... OMIM:613658
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Myopathy, Myofibrillar, 2
Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric... OMIM:608810
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, B-cell lymphoma, Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... OMIM:132900
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Esophageal Atresia
Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ... ORPHA:1199
Staphylococcal Necrotizing Pneumonia
Shock, Respiratory distress, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Leukocytosis, P... ORPHA:36238
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Recurrent otitis media, Respiratory distress OMIM:615993
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Cleft palate, Atrial septal defect, Failure... OMIM:614261
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co... OMIM:614602
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
De Barsy Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular septal defect, Patent duct... ORPHA:2962
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Patent foramen ovale, ... ORPHA:391487
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Myopathy, Low-output congestive heart failure, Hypertrophic cardiomyopathy,... ORPHA:91130
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Niemann-Pick Disease, Type B
Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenom... OMIM:607616
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Anorexia, Ground-glass opacification,... ORPHA:1302
Polymyositis
Myocardial infarction, Anorexia, Gastroesophageal reflux, Cough, Hepatomegaly, Abdominal pain, Di... ORPHA:732
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat... ORPHA:563
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl... ORPHA:26793
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Diamond-Blackfan Anemia
Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Adenocarcinoma of... ORPHA:124
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, A... OMIM:616100
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Crackles, Cough, Mediastinal lymphadenopathy, Dysp... OMIM:614742
Avian Influenza
Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Vomiting, Cough... ORPHA:454836
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, Anorexia, T lymphocytopenia, ... OMIM:619381
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a... ORPHA:45452
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Breast hypoplasia, Feeding difficulties OMIM:613804
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Feeding difficulties in infancy, Malnutri... OMIM:612776
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Respiratory insufficiency, Hepatomegaly ORPHA:139406
Sepsis In Premature Infants
Abnormal mucociliary clearance, Gastrointestinal dysmotility, Vomiting, Neutropenia, Hepatomegaly... ORPHA:90051
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Autoimmune Lymphoproliferative Syndrome
Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count,... ORPHA:3261
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Slender build, Cac... ORPHA:558
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem... OMIM:618999
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... ORPHA:1303
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Feeding difficulties in infancy, Respiratory insuf... ORPHA:238329
Syndromic Diarrhea
Villous atrophy, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, Colitis, Hypop... ORPHA:84064
Acute Lung Injury
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,... ORPHA:178320
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, L... ORPHA:100025
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... ORPHA:235
Aspergillosis
Sinusitis, Intracranial hemorrhage, Diffuse reticular or finely nodular infiltrations, Cough, Neu... ORPHA:1163
Stuve-Wiedemann Syndrome 2
Respiratory distress, Eczema, Congestive heart failure, Dysphagia, Camptodactyly, Pulmonary arter... OMIM:619751
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, High, narrow ... OMIM:619472
Myopathy, Myofibrillar, 1
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... OMIM:601419
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Abdominal pain, Pu... ORPHA:29207
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Small for gestational age, Oligohydramnios, Dehydration, Atrial septal... OMIM:208085
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Polyhydramnios, Cardiomegaly, Dextrotransposition of the great arteries, At... OMIM:306955
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... OMIM:619375
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Respiratory failure, Median cleft lip and p... ORPHA:1832
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Recurrent respiratory infections, Orthopnea, Atrial fibrillation, Left atrial enlar... ORPHA:75249
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Pruritus, Arthrogryposis multiplex congenita, Failure to... OMIM:613404
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Absent peripheral lymph nodes in presence of infection, Feeding difficulties in infancy, ... ORPHA:98813
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess,... OMIM:301074
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Dyspn... ORPHA:210136
Sarcoidosis
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... ORPHA:797
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Nausea and ... ORPHA:537
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Raynaud phenomenon, Abno... ORPHA:767
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Dyspnea, Cardiomyopathy, Respiratory insufficiency, Global systolic dysfunction OMIM:606842
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Inflammatory Skin And Bowel Disease, Neonatal, 2
Polyhydramnios, Pustule, Recurrent pneumonia, Dehydration, Coarctation of aorta, Hypertension, Fa... OMIM:616069
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ... ORPHA:99745
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Infection-Related Hemolytic Uremic Syndrome
Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomiti... ORPHA:544482
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Hepatomegaly, Eczema, Abdominal pain, Congestive heart failure, Lymphade... OMIM:615895
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, High palate, Type... OMIM:255160
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Feeding difficulties, Cardiomyopathy, Myopathy, Hepatic steatosis ORPHA:26792
Pericardial And Diaphragmatic Defect
Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag... ORPHA:2847
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... OMIM:234810
Combined Oxidative Phosphorylation Deficiency 10
Small for gestational age, Cardiomegaly, Pericardial effusion, Pleural effusion, Ascites, Bradyca... OMIM:614702
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Cerebral hemorrhage, Gastrostomy tube feeding in i... OMIM:620278
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:2516
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous s... OMIM:613960
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Autosomal Recessive Cutis Laxa Type 2, Classic Type
Decreased muscle mass, Subretinal pigment epithelium hemorrhage, Feeding difficulties, High palat... ORPHA:357074
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... OMIM:617300
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Respiratory distress, Anorexia, Abdominal pain, Splenomegaly, ... ORPHA:79312
Transaldolase Deficiency
Edema, Abnormal respiratory system physiology, Hydrops fetalis, Hepatosplenomegaly, Biventricular... ORPHA:101028
Congenital Myopathy 24
Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card... OMIM:617336
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Abdominal pain, Congestive heart failure, Splenomegaly, Telangiectasi... OMIM:235200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid... ORPHA:2137
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Pulmonary arterial h... OMIM:616028
Immunodeficiency 48
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... OMIM:269840
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomy... OMIM:212140
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Volvulus, Internal hemorrhage, Right ventricular hyper... ORPHA:335
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:616835
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... OMIM:619611
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... ORPHA:268
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet vol... OMIM:617718
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... ORPHA:183
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, Generalize... OMIM:614437
Primary Effusion Lymphoma
Abnormal peritoneum morphology, B-cell lymphoma, Abdominal pain, Pericardial effusion, Abdominal ... ORPHA:48686
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Abnormal metaphysis morphology ORPHA:417
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Colitis, Bronchiectasis OMIM:301220
Double Outlet Right Ventricle
Failure to thrive, Tachycardia, Ventricular septal defect, Intestinal malrotation, Tachypnea, Sub... ORPHA:3426
Immunodeficiency 87 And Autoimmunity
Villous atrophy, Atrophic gastritis, Secretory diarrhea, Atrial septal defect, Atrioventricular c... OMIM:619573
Ellis Van Creveld Syndrome
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... ORPHA:289
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Feeding difficulties in infancy, Cryptorchidism, Megarec... OMIM:301056
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Muscle Filaminopathy
Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeletal muscle, R... ORPHA:171445
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, High, narrow palate, Flexion contracture, Cardiomyopathy, ... ORPHA:171433
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary veno... ORPHA:1120
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Cat Eye Syndrome
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Rectal atresia,... OMIM:115470
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Recurrent skin infecti... OMIM:620210
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal atresia, Anal stenosis, Patent foramen ovale, Patent ductus arteriosus, Increased nuchal tra... ORPHA:280633
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm ORPHA:172
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Hepatomegaly, Cardiac arrest, Myofiber disarray, Feeding difficulties, Myop... OMIM:604377
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Chronic diarrhea, Esophageal... OMIM:614576
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... OMIM:619705
Aortic Aneurysm, Familial Thoracic 12
Spontaneous pneumothorax, Bicuspid aortic valve, Chronic pulmonary obstruction, Ascending tubular... OMIM:619825
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... ORPHA:79301
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala... OMIM:202650
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Pulmonary embolism, Right ventricular dilatation, Abnormal left ventricular functi... ORPHA:70591
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Ar... OMIM:616414
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder OMIM:607685
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Abnormal heart morphology, Small thenar eminence, Anal atresia OMIM:613390
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... OMIM:300853
Childhood-Onset Nemaline Myopathy
Scapular winging, Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Flexi... ORPHA:171439
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Abnormal heart morphology, Cardiomyo... ORPHA:79327
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... ORPHA:439
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Keutel Syndrome
Sinusitis, Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypopl... OMIM:245150
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Eryth... ORPHA:540
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Trimethylaminuria
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of ... ORPHA:379
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Respiratory insufficiency ORPHA:1909
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Scedosporiosis
Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br... ORPHA:449280
Meckel Syndrome, Type 7
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Oligohydramnios, Hepatospl... OMIM:267010
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Feeding difficulties, Dysphagia, Atrial septal defect, Hypoplastic spleen, ... ORPHA:89844
22Q11.2 Deletion Syndrome
Feeding difficulties in infancy, Anorectal anomaly, Abnormal lung lobation, Gastroesophageal refl... ORPHA:567
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Neuromuscular dysphagia, Axial muscle stiffness ORPHA:240085
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Med... ORPHA:133
Plague
Glossitis, Chapped lip, Respiratory distress, Anorexia, Lymphadenitis, Bloody diarrhea, Acute inf... ORPHA:707
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Intestinal atresia, Abnormal aortic m... ORPHA:3405
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Hepatomegaly, Right axis deviat... OMIM:232300
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Maternally-Inherited Diabetes And Deafness
Malabsorption, Congestive heart failure, Hypertension, Constipation, Arrhythmia, Hypertrophic car... ORPHA:225
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
Meier-Gorlin Syndrome 1
Respiratory distress, Feeding difficulties in infancy, Cryptorchidism, Flexion contracture, Cleft... OMIM:224690
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... OMIM:618300
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Hiatus hernia, Pulmonary ar... ORPHA:3342
Double Outlet Left Ventricle
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Abnormal coronary art... ORPHA:3427
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Hepatomegaly, Intestinal malrotation, Hiatus hernia, Esophageal ... ORPHA:2538
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Dyspha... OMIM:616276
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Repeate... ORPHA:536467
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Nipah Virus Disease
Nausea and vomiting, Respiratory distress, Anorexia, Recurrent pharyngitis, Hypotension, Cough, I... ORPHA:99825
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy, Neonatal respiratory distress ORPHA:254857
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity OMIM:615190
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Malabso... ORPHA:3452
Diffuse Cutaneous Systemic Sclerosis
Nausea and vomiting, Telangiectasia of the skin, Malabsorption, Congestive heart failure, Dyspnea... ORPHA:220393
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... OMIM:617577
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Desquamative in... OMIM:615952
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desquamative interstit... OMIM:265120
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Abnormal heart morphology, Anteriorly placed anus, Feeding d... OMIM:239300
Mixed Connective Tissue Disease
Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hemolytic anemia, Hepatomegaly, Medias... ORPHA:809
Familial Colorectal Cancer Type X
Flexion contracture, Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarc... ORPHA:440437
Williams Syndrome
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Periorbital edema, My... ORPHA:904
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Elevated circulatin... ORPHA:2796
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... ORPHA:330001
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Hepatomegaly, Ankle flexion contracture, High, narrow palate, Splenomegaly,... OMIM:608799
Thyroid Lymphoma
Respiratory distress, Dyspnea, Lymphoma, Upper airway obstruction, Lymphadenopathy, Stridor, Dysp... ORPHA:97285
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Flexion contracture, Feedin... OMIM:619383
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Skeletal muscle atrophy, R... OMIM:211530
Lynch Syndrome
Flexion contracture, Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of... ORPHA:144
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Leprechaunism
Hepatomegaly, Skeletal muscle atrophy, Enlarged ovaries, Abdominal distention, Rectal prolapse, M... ORPHA:508
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary... ORPHA:85443
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Feeding difficulties in infancy, Recurrent pneumoni... ORPHA:314655
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,... OMIM:209950
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Myofib... OMIM:619424
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... ORPHA:79330
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618243
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Gastrointestinal stro... OMIM:115310
Q Fever
Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho... ORPHA:781
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Overweight, Z-band str... OMIM:619178
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hepatomegaly, Microvesicular hepatic steatosis, Feeding difficulties, Strid... OMIM:615595
Immunodeficiency 31C
Skeletal muscle atrophy, Villous atrophy, Protein-losing enteropathy, Cough, Recurrent vulvovagin... OMIM:614162
Legionnaires Disease
Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Abdominal pain, Recurrent pha... ORPHA:549
Lymphoid Interstitial Pneumonia
Crackles, Cough, Decreased DLCO, Multiple pulmonary cysts, Hepatomegaly, Respiratory tract infect... ORPHA:79128
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Eczema, Polyhydramnios, Large for gestational age, ... OMIM:615355
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Cardiomegaly, Atrioventricular block, Pedal edema, Left bundle branch bloc... ORPHA:75565
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Feeding difficulties OMIM:616341
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Coronary artery calcification, Cardiomegaly, Myocardial infarction... OMIM:208000
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... ORPHA:199241
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Slc35A1-Cdg
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... ORPHA:238459
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... OMIM:614299
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Cleft palate, Feeding difficulties, Glossoptosis, Microglossia OMIM:614669
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Bronchial Neuroendocrine Tumor
Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Nonproductive cough, Hepatomeg... ORPHA:97287
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Recurrent bronchopulmonary ... OMIM:617303
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Skin rash, Fetal ascites, Pericardial effus... ORPHA:292
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,... ORPHA:90291
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Congenital Myopathy 21 With Early Respiratory Failure
Dyspnea, Lipoid pneumonia, Hypertrophic cardiomyopathy, Respiratory failure, Nocturnal hypoventil... OMIM:620326
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatic ... OMIM:608013
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, La... ORPHA:100057
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Respiratory insufficiency due to m... ORPHA:329336
Yellow Nail Syndrome
Recurrent respiratory infections, Renal neoplasm, Sinusitis, Biliary tract neoplasm, Dyspnea, Bro... ORPHA:662
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Intestinal perforation, Abnormal lung morphology, Bloody diarrhea, Intracranial hemorrhage, Abnor... ORPHA:464321
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenom... OMIM:615631
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... OMIM:615513
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro... ORPHA:436252
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration ... OMIM:243700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Dyspnea... ORPHA:2759
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary arterial hypertension OMIM:619003
Takayasu Arteritis
Abnormal endocardium morphology, Increased inflammatory response, Abnormal heart valve morphology... ORPHA:3287
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Microglossia, Myocardial fibrosis, Hydrops ... OMIM:253250
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... ORPHA:97214
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Hydrops fetalis, Ascites, Hig... OMIM:269920
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrh... ORPHA:2930
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... ORPHA:723
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye... ORPHA:48104
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic ... OMIM:214900
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa vara, Narrow ... OMIM:602271
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Lymphoma, Bron... OMIM:240500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Arthritis, In... ORPHA:324964
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c... ORPHA:91359
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress, Feeding difficulties, Congenital contracture... OMIM:615042
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Myelodysplasia, Abdomina... ORPHA:98849
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions, Wheezing, Feeding difficulties, Stridor, Vo... ORPHA:137935
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Fasciitis, Sinusitis, Tachypnea, Increased circulating myelocyte ... ORPHA:36234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Chronic diarrhea, Feeding difficult... OMIM:613489
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Congenital hypoplastic a... ORPHA:77297
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopath... OMIM:232500
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Pedal ... ORPHA:422
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... OMIM:614473
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Dyspnea, Ab... OMIM:230800
Congenital Aortic Valve Stenosis
Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Congenital Factor Xiii Deficiency
Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Intramuscular hematoma, Myel... ORPHA:331
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia, Respiratory insufficiency OMIM:612999
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph... OMIM:188400
Aortic Valve Disease 2
Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Coarctation of aorta, As... OMIM:614823
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Abnormal lung lobati... ORPHA:3097
Williams-Beuren Syndrome
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Gastroesophageal reflux, Atrial sept... OMIM:194050
High Altitude Pulmonary Edema
Nausea and vomiting, Orthopnea, Tachycardia, Anorexia, Crackles, Dyspnea, Leukocytosis, Tachypnea... ORPHA:330012
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Dextrocardia, Abnormal he... ORPHA:2257
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Alpha-N-Acetylgalactosaminidase Deficiency
Constipation, Recurrent pneumonia, Gastroesophageal reflux, Cardiomegaly ORPHA:3137
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Agenesis of pul... OMIM:601186
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial sep... OMIM:108900
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis,... ORPHA:75234
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... OMIM:612714
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233710
Colonic Atresia
Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s... ORPHA:1198
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Recurrent ... OMIM:232240
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... OMIM:616749
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Meacham Syndrome
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata... OMIM:608978
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Fasciitis, Uveitis, Conjunctivitis, Vomiting, Abdominal pain, Recurrent pharyngitis, Le... ORPHA:32960
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... OMIM:211600
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Myocardial infarction, Anorexia, Recurrent p... ORPHA:108
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Failure to thriv... ORPHA:2255
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... OMIM:160900
Methimazole Embryofetopathy
Ventricular septal defect, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Coarcta... ORPHA:1923
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Arterial rupture, Mitral valve prolapse,... ORPHA:287
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Recurr... OMIM:620282
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... OMIM:619463
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Ileal atresia, Abdominal distention, Peritoni... OMIM:619351
Familial Mediterranean Fever
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... ORPHA:342
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... ORPHA:439232
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Nk-Cell Enteropathy
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abdominal pain, Abnormal gastr... ORPHA:263665
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, High, narrow palate,... OMIM:612863
Intellectual Developmental Disorder, Autosomal Recessive 41
Splenomegaly, Hepatomegaly, Recurrent pneumonia, High palate OMIM:615637
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... OMIM:233690
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Intestinal malrotation, Pulmonary hypoplasia ORPHA:3035
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Hepatomegaly, Pancytopenia, Respiratory distress, Ne... OMIM:260400
Hemochromatosis, Type 2A
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Azoospermia, Cardio... OMIM:602390
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Epistaxis, Abnormality of neutrophi... ORPHA:33226
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... OMIM:618213
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Absent micr... OMIM:301000
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Felty Syndrome
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... ORPHA:47612
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma, Chronic diarrhea, Ly... OMIM:607271
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Dysphagia ORPHA:240103
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy, Respiratory insufficiency OMIM:615352
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Atrial septal defect, Pate... ORPHA:505248
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Small for gestational age, Polyhydramnios, Cardiomegaly, Flexion contr... OMIM:616897
Malaria
Anemia, Respiratory distress, Thrombocytopenia, Nausea and vomiting ORPHA:673
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Patent ductus a... OMIM:606003
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia... OMIM:607594
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Adult-Onset Still Disease
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Skin rash, Abdominal pain,... ORPHA:829
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Narrow p... OMIM:617022
Alg3-Cdg
Abnormality of the gastrointestinal tract, Feeding difficulties, Macroglossia, Cardiomyopathy, Hi... ORPHA:79321
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro... OMIM:610539
Diabetic Embryopathy
Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fal... ORPHA:1926
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Cleft p... OMIM:600987
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy ORPHA:868
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Facial edema, Spleno... OMIM:256550
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Contractures of the large j... ORPHA:329178
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... OMIM:617180
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Hepatomegaly, Increased hepatocellular lipid droplets, Respiratory insuffic... OMIM:220110
Sapho Syndrome
Psoriasiform dermatitis, Acne, Neoplasm of the skeletal system, Osteomyelitis, Malabsorption, Abd... ORPHA:793
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, High palate, Ascending aort... OMIM:616166
Mercury Poisoning
Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Inte... ORPHA:330021
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... OMIM:616501
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Portal ... ORPHA:131
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Fasciitis, Gastrointestinal inflammation, Vomiting, Acute hepa... ORPHA:39812
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Pustule, Splenomegaly... OMIM:612852
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... OMIM:208540
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Abdominal pain, Feeding difficulti... OMIM:620166
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Adams-Oliver Syndrome 6
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... OMIM:616589
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Respiratory insufficiency, Aplasia/Hypoplasia of the lungs, Ascites, Anemia ORPHA:1046
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaire... ORPHA:2004
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Abnormality of the ... ORPHA:579
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... OMIM:620080
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Rectal a... OMIM:601495
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis, Obesity, We... ORPHA:251071
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Pudendal Neuralgia
Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genitourinary tract... ORPHA:60039
Hereditary Angioedema Type 1
Respiratory distress, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Dyspnea,... ORPHA:100050
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Congestive heart fa... OMIM:309900
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Hypertrophic cardiomyopathy, Apnea OMIM:618236
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... OMIM:613834
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Atrial septal defect, Absent gallbladder, Unilateral lung agenesis, Transient ischemic attack, Ga... ORPHA:500150
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Failure t... OMIM:251000
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly, Abnormal limb bone morphology ORPHA:2204
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Edema, Polyhydramnios, Patent ductus arteriosus,... OMIM:607143
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Abnormal aortic morphology, Hypertension ORPHA:3222
Behçet Disease
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Acne, Abd... ORPHA:117
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P... OMIM:249100
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... ORPHA:75233
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... ORPHA:93672
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pericallosal lipoma, Congestive heart fai... ORPHA:3309
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Failure to thrive in infancy, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Pulmonary Arteriovenous Malformation
Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Hemot... ORPHA:2038
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Hepatomegaly, Poor appetite, Myelodysplasia, Reye syndrome-like episodes, D... ORPHA:927
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Tricuspid regurgitation, Ventricular septal defect, Slender build, Abnormal ca... ORPHA:466791
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hepatomegaly OMIM:614741
Diaphanospondylodysostosis
Respiratory distress, Nephroblastomatosis, Cleft palate, Respiratory insufficiency, Abnormal live... OMIM:608022
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis, Short 5th metacarpal ORPHA:66518
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Feeding difficulties in infancy, Esophageal atre... OMIM:610536
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Dysphagia, Lower lim... ORPHA:1177
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Congenital diaphragmatic hernia, Dyspnea, Dilated ... ORPHA:2556
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Hepatoblastoma, Atrial s... OMIM:312870
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension... OMIM:613320
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Cough, Achalasia, Tracheobronchial leiom... ORPHA:1018
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... OMIM:620306
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp... ORPHA:99094
Immunodeficiency 54
Recurrent respiratory infections, Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Respi... OMIM:609981
Mgat2-Cdg
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnor... ORPHA:79329
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, S... ORPHA:3226
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Anemia, Hepa... ORPHA:79259
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Increased mito... ORPHA:263297
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Tachypnea, Coarctation of aorta, Gastroesophageal reflux, Atrial septal... OMIM:614857
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Gout, Hypertension, In... OMIM:232220
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Feeding difficulties in infancy, Abdominal distention, Macroglossia, Consti... ORPHA:226313
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... OMIM:618042
Roifman Syndrome
Hip contracture, Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Eosinophi... OMIM:616651
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... ORPHA:85414
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Sh... OMIM:620369
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... ORPHA:93476
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent... ORPHA:284169
Giant Cell Arteritis
Glossitis, Pericarditis, Epistaxis, Abnormal pleura morphology, Sudden cardiac death, Cough, Recu... ORPHA:397
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Diaphanospondylodysostosis
Respiratory distress, Cleft palate ORPHA:66637
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy OMIM:617184
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Recurrent respiratory infections, Acute hepatic failure, Nausea and ... ORPHA:36426
Adult Acute Respiratory Distress Syndrome
Shock, Pneumonia, Dyspnea, Vasculitis, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abn... ORPHA:70578
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... ORPHA:254886
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic intersti... OMIM:618495
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Hyperparathyroid... ORPHA:534
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Thiamine... OMIM:249270
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Failure to thrive in infancy, Cardiomegaly ORPHA:858
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Aortic regurgitation, Apnea, Rhabdomyosarcoma, Polyhydramnios, Increased nu... ORPHA:1052
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Cachexia, Cardiomegaly, Myopathy, Distal arthrogryposis, A... ORPHA:42
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Repeated pneumothoraces, Intestinal malrotation, Congenital diaphragma... OMIM:617602
Gamma-Heavy Chain Disease
Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmun... ORPHA:100026
Heart Defects, Congenital, And Other Congenital Anomalies
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... OMIM:600001
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Cryptorchidism, Cleft palate, Anteriorly pla... OMIM:217980
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory... OMIM:620296
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... OMIM:602347
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Skeletal muscle atrophy, Abnormal mitocho... ORPHA:17
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Nausea and vomiting, Hepatomegaly, Respiratory distress, Anemia, Neutropenia, Pancreatitis, Throm... ORPHA:289916
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Ventricular septal defect, Small ... ORPHA:1708
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Respiratory insufficiency, Arrhythmia OMIM:300696
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent skin infections, Pneumonia, Dyspnea, Esophageal stricture, Pneumo... ORPHA:79404
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Peptic ulcer, Elevated circulating growth hormone concentration, P... OMIM:131100
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis OMIM:619433
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Tetanus
Respiratory distress, Tachycardia, Bowel incontinence, Abdominal pain, Tachypnea, Hypertension, B... ORPHA:3299
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... OMIM:613327
Microphthalmia, Syndromic 1
Aganglionic megacolon, Bicuspid aortic valve, High, narrow palate, Rectal prolapse, Pyloric steno... OMIM:309800
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Carcinoid tumor, Nausea, Biliary tract... ORPHA:100085
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Abdominal pain, Dyspnea, Hypoxemia, Syncope, Vomiting, Palpita... ORPHA:464453
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Rectal prolapse, Pseudohypoparathyroidism, Feeding difficulties, Gastroesophageal reflux,... OMIM:617157
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, High palate, Gastroesophageal reflux, Neut... ORPHA:443811
Wrinkly Skin Syndrome
Recurrent sinopulmonary infections, Decreased muscle mass, Cryptorchidism, High palate, Emphysema... ORPHA:2834
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen... OMIM:616564
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Generaliz... ORPHA:160
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Patent duct... OMIM:239850
Isolated Atp Synthase Deficiency
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:254913
Cyclic Vomiting Syndrome
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Cardiomyopathy, Vomiting, Nausea OMIM:500007
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... OMIM:614921
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Igg4-Related Aortitis
Intestinal obstruction, Thoracic aortic aneurysm, Asthma, Abnormal aortic arch morphology, Weight... ORPHA:449400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneumonia, Ne... OMIM:150550
Duchenne Muscular Dystrophy
Cardiomyopathy, Respiratory insufficiency ORPHA:98896
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, High, narrow palate, Increased nuchal translucency, Cleft palate, Abno... OMIM:618494
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Abdominal pain, Dyspnea, Cardiom... ORPHA:79430
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmatic hernia, Polyhydramnios, A... ORPHA:2059
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, Cirrhosis, Hepatocellular carci... OMIM:619902
Prolidase Deficiency
Hepatomegaly, Chronic lung disease, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, ... OMIM:170100
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Diarrhea, Intermittent jaundice, Cirrhosis,... OMIM:601847
Kindler Epidermolysis Bullosa
Recurrent skin infections, Camptodactyly of finger, Esophageal stricture, Flexion contracture, Ne... ORPHA:2908
Moebius Syndrome
Decreased testicular size, Respiratory distress, Feeding difficulties in infancy, Congenital fibr... OMIM:157900
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, High palate, Bradycardia, Pul... OMIM:619272
Chand Syndrome
Atelectasis, Bifid tongue, Cleft palate ORPHA:1401
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Respiratory arrest OMIM:600649
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension OMIM:618886
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Le... OMIM:613989
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... ORPHA:1546
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Cleft palate, Feeding difficulties, Atria... OMIM:300968
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Dyspnea, Neoplasm, Ascites ORPHA:168811
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pancreatitis, Congestive heart fai... ORPHA:26791
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections,... OMIM:252920
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Facial palsy, Polyhydramnios, Ankyloglossia, Gastroesophageal r... OMIM:620186
Succinic Acidemia
Respiratory distress OMIM:600335
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat... OMIM:613155
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insufficiency OMIM:615917
Frontometaphyseal Dysplasia 2
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Feeding difficu... OMIM:617137
Gaisböck Syndrome
Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Dyspnea, Hypovolemia, Increas... ORPHA:90041
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Skin rash, Thrombocytopenia, Splenomegaly, Jaundice, Atr... ORPHA:290
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy... ORPHA:747
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myopathy, Hepatic steatosis OMIM:610717
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Abnormal... ORPHA:31826
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... ORPHA:64743
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Pericardial effusion, Thrombocytopenia, Abnormal lung morphology,... ORPHA:464329
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Multiple lipomas, Hypert... ORPHA:1349
Sézary Syndrome
Skeletal muscle atrophy, Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal pleura morphology, Spl... ORPHA:3162
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma ORPHA:97286
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Recurrent pharyngi... OMIM:308240
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, N... OMIM:612541
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Asymmetric se... OMIM:252930
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... OMIM:300280
Gaucher Disease, Type Ii
Hepatomegaly, Apnea, Cough, Thrombocytopenia, Splenomegaly, Feeding difficulties, Stridor, Gastro... OMIM:230900
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, ... OMIM:257200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism... OMIM:270100
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti... ORPHA:340
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... ORPHA:2241
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect... ORPHA:169105
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Cryptorchidism, Splenomegaly, ... OMIM:235255
Joubert Syndrome 33
Splenomegaly, Syndactyly OMIM:617767
Ornithine Transcarbamylase Deficiency
Splenomegaly, Pyloric stenosis, Hepatic failure ORPHA:664
Niemann-Pick Disease, Type C2
Hepatomegaly, Neonatal respiratory distress, Bone-marrow foam cells, Fetal ascites, Splenomegaly,... OMIM:607625
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Raynaud phe... OMIM:615688
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Esophageal atresia, Patent ductus arteriosus, Abnormal lung lobation, ... OMIM:300514
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Respiratory distress, Facial hypotonia, Apnea, Cardiac... ORPHA:2131
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Abdominal pain... ORPHA:556
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
Coccidioidomycosis
Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou... ORPHA:228123
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Feeding difficu... ORPHA:137914
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess ORPHA:555905
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Respiratory dist... OMIM:615512
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st... OMIM:278000
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... ORPHA:731
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Pericardial effusion, Hypersplenism, Thromb... ORPHA:77259
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Small for gestational age, Abnormal lung lobatio... OMIM:614114
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaundice, Splenomegaly, Diarrhea, A... OMIM:607765
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Respiratory insufficiency due to mu... OMIM:310200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta ORPHA:2876
Listeriosis
Respiratory distress, Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Inf... ORPHA:533
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r... OMIM:258450
Coffin-Lowry Syndrome
Rectal prolapse, High palate, Mitral regurgitation, Narrow palate OMIM:303600
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... OMIM:263200
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Portal hypertension, Reduced forced... OMIM:613385
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Oligohydramnios ORPHA:261304
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... ORPHA:93259
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis... OMIM:613313
Propionic Acidemia
Hepatomegaly, Pancytopenia, Apnea, Eczema, Poor appetite, Feeding difficulties in infancy, Thromb... OMIM:606054
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... ORPHA:1414
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Sotos Syndrome
Astrocytoma, Flexion contracture, Neoplasm, Gastroesophageal reflux, Atrial septal defect, Chroni... ORPHA:821
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Situs inversus totalis, Asplenia, Abnorma... OMIM:615415
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Jaundice, Vomiting, Pulmonary hypoplasia, Hepatic periportal ... OMIM:231680
Scrub Typhus
Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Myocarditis, Dysp... ORPHA:83317
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Chronic gastritis, Internal carotid artery dissection, Bicuspid... OMIM:150230
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Cleft palate, Coarctation of aorta OMIM:615502
Wolfram Syndrome
Gastrointestinal hemorrhage, Central apnea, Malabsorption, Feeding difficulties in infancy, Abnor... ORPHA:3463
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Congenital diaphragmatic hernia, Cleft palate, Feeding d... OMIM:606164
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hypoplasia of t... ORPHA:231226
Myopathy, Myofibrillar, 6
Reduced forced vital capacity, Respiratory insufficiency, Restrictive ventilatory defect, Mitral ... OMIM:612954
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Tachycardia, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyol... ORPHA:368
Immunodeficiency 32B
Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,... OMIM:226990
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperp... ORPHA:247691
Brucellosis
Liver abscess, Bronchitis, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, V... ORPHA:1304
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndr... ORPHA:276152
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphoma, Respiratory insufficien... ORPHA:391
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... ORPHA:348
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Acute infantile spinal muscular atrophy, Flexion con... OMIM:271225
Fumarase Deficiency
Necrotizing enterocolitis, Intrahepatic cholestasis, Ascites, Cutaneous leiomyoma, Perimembranous... OMIM:606812
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Cough, Dysp... ORPHA:139402
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Hypertension, Cardiomyopathy, Pituitary prolactin cell adenoma, Pituitary grow... OMIM:102200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Feeding difficulties, Hypopnea, Gastr... OMIM:618426
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Hec Syndrome
Cardiomyopathy, Arrhythmia, Respiratory insufficiency, Endocardial fibroelastosis ORPHA:2119
Kleefstra Syndrome
Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal defect, Dyspnea, Pulm... ORPHA:261494
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Splenomegaly, Pancreatic lymphangiectasi... ORPHA:1655
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital capacity, Bowe... ORPHA:329478
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Keratitis, Xerostom... ORPHA:1051
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Keratoconjunctivitis sicc... ORPHA:309031
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma OMIM:606764
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... OMIM:208050
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect... OMIM:620025
Folinic Acid-Responsive Seizures
Respiratory distress, Abdominal distention, Apnea ORPHA:79097
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... OMIM:175050
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618378
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Gastrointestinal stroma tumor, Leiomyosarcoma, Hyperten... ORPHA:139411
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inf... ORPHA:83617
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff... ORPHA:3015
Vitamin B12-Unresponsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Respiratory insufficiency... ORPHA:27
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Bowel incontinence, Congestive heart failure, Uterine leiomy... OMIM:616482
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... OMIM:155310
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Pfeiffer Syndrome Type 3
Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr... ORPHA:93260
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arthrogry... ORPHA:163746
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Chronic oral candidi... OMIM:615387
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Primary Dystonia, Dyt4 Type
Respiratory distress, Torticollis, Dysphagia ORPHA:98805
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Congestive ... ORPHA:354
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Hypoplasia of t... ORPHA:231214
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands, Flexion contract... ORPHA:544503
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:610773
Mitochondrial Dna-Associated Leigh Syndrome
Hepatomegaly, Apnea, Cardiac conduction abnormality, Dyspnea, Ragged-red muscle fibers, Dilated c... ORPHA:255210
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Decreased muscle mass, Hepatomegaly, Portal hypertension, Cardiomegaly, Abdom... ORPHA:465508
Plasminogen Deficiency, Type I
Duodenal ulcer, Recurrent upper respiratory tract infections, Conjunctivitis, Periodontitis, Neph... OMIM:217090
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Neonatal Lupus Erythematosus
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Hemo... ORPHA:398124
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Protruding tongue, Cardiomegaly, Congestive heart failur... ORPHA:324410
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Recurrent pneumonia, Decreased propor... OMIM:619824
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... OMIM:618164
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Apnea, Bradycardia, Cardiac arrest OMIM:618235
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Apnea, Antenatal intracerebral hemorrhage, Cardiomeg... OMIM:608836
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Edema, Dyspnea, Congestive heart failure, Heart murmur, Stroke, Bacterial e... ORPHA:1054
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy ORPHA:1369
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Angina pectoris, Splenomegaly, Dyspnea, Incre... ORPHA:565612
Oromandibular Dystonia
Respiratory distress, Torticollis, Dysphagia ORPHA:93958
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnormal intrahepatic bile duct morph... ORPHA:562639
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Mitral valve prolapse, Hypertension, Mitral regurgitation, Hepatic cysts OMIM:173900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hepatomegaly, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy... ORPHA:264580
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Distal amyotrophy, Myopathy, Hepatic fibrosis OMIM:232400
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Mucopolysaccharidosis Type 6
Sinusitis, Abnormal heart valve morphology, Splenomegaly, Recurrent upper respiratory tract infec... ORPHA:583
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu... OMIM:105210
Tuberous Sclerosis Complex
Respiratory distress, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocyt... ORPHA:805
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of... OMIM:615630
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Thrombocytopenia, Feeding difficulties ORPHA:370924
Penile Agenesis
Ventricular septal defect, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal f... ORPHA:49
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa... OMIM:235555
Esophagitis, Eosinophilic, 2
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Eosinophilia, Esophagitis, Dysphagia OMIM:610247
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Holocarboxylase Synthetase Deficiency
Respiratory distress, Eczema, Tachypnea, Weight loss, Perioral eczema ORPHA:79242
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Thrombocytopenia, Feeding difficulties OMIM:615597
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Osteogenesis Imperfecta, Type X
Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Chronic lung disease OMIM:613848
Leptospirosis
Respiratory distress, First degree atrioventricular block, Anorexia, Uveitis, Cough, Hepatomegaly... ORPHA:509
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Chilblains, Feeding difficulties in infancy, Splenomegaly, Vasculitis, Multiple gas... OMIM:225750
Immunodeficiency 36 With Lymphoproliferation
B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Br... OMIM:616005
Hemochromatosis, Type 4
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia OMIM:606069
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Microglossia, Respiratory distress ORPHA:990
Fraser Syndrome 2
Intestinal malrotation, Abdominal distention, Rectal atresia, Respiratory failure, Hypoplasia of ... OMIM:617666
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... OMIM:234700
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, High, narrow palate, Congestive heart failure, Recur... ORPHA:1900
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... OMIM:618892
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios... ORPHA:51608
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Visceral angiomatosis, Cryptorchidism, Abnormality of the pancreas, Cleft p... ORPHA:1555
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Abnormal ... ORPHA:2306
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:618228
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Splenomegaly, Jaundice, Hepatitis, Ly... ORPHA:381
Infantile Krabbe Disease
Respiratory distress, Cachexia, Abnormal heart rate variability, Respiratory failure, Shoulder gi... ORPHA:206436
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hern... OMIM:613309
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular... OMIM:617168
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Apnea OMIM:616896
Agel Amyloidosis
Tongue atrophy, Facial palsy, Respiratory tract infection, Xerostomia, Cardiomyopathy, Keratoconj... ORPHA:85448
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Congestive heart failure, Recurrent pneumonia, Flexion contracture, Feeding... OMIM:616271
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon OMIM:609313
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... ORPHA:221
Chops Syndrome
Ventricular septal defect, Gastroparesis, High, narrow palate, Cryptorchidism, Splenomegaly, Anom... OMIM:616368
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Spleno... OMIM:602450
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Omenn Syndrome
Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Chronic diarrhea, Th... ORPHA:39041
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Flexion contracture, Cardiomyopathy, Myopathy, High palate, Nemaline bodies OMIM:616549
Odontochondrodysplasia
Respiratory distress, Patent ductus arteriosus ORPHA:166272
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Diarrhea, Recurrent upper respiratory tract infections, Asymmetric se... OMIM:252900
Vici Syndrome
Recurrent respiratory infections, Feeding difficulties in infancy, Feeding difficulties, Cardiomy... ORPHA:1493
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, Limb muscle weakness, EMG: myopathic abnormalities, Cardiomyopathy, Bra... OMIM:609286
Mucopolysaccharidosis, Type Vii
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Splenomegaly, Recurrent upper res... OMIM:253220
Opsismodysplasia
Hepatomegaly, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone, Abnormal... ORPHA:2746
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cleft palate, Cardiomyopathy, Respiratory failure, Impaired myocardial contractilit... ORPHA:158687
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Atrial septal defect, Pate... OMIM:301068
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Feeding difficulties in infancy, Congestive heart fa... ORPHA:746
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Vomiting, Hypotension, Internal h... ORPHA:247257
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Neonatal respiratory distress, Hepatomegaly, Hypertrophic cardiomyopathy, High palate OMIM:619053
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Respiratory distress, Microvesicular hepatic stea... OMIM:256810
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Cardior... OMIM:212138
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Pedal edema... ORPHA:228116
Absent Radius-Anogenital Anomalies Syndrome
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula ORPHA:3016
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatic failure, Hepatitis, Diarr... OMIM:613812
Multiple Endocrine Neoplasia Type 1
Anorexia, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenom... ORPHA:652
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... ORPHA:402075
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Coarctation of aorta, Pulmonic stenosis, ... OMIM:614300
Hennekam Syndrome
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Lymphopenia, Cam... ORPHA:2136
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Nausea and vomiting, Elevated hemoglobin A1c, Malabsorption, Dyspnea, Feeding difficulties, Exert... OMIM:616539
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Dyspnea, Feeding difficulties, Respiratory failure ORPHA:2707
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Mucopolysaccharidosis Type 3
Cardiomegaly, Adenoiditis, Flexion contracture, Atrioventricular block, Aspiration pneumonia, Oti... ORPHA:581
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... OMIM:231005
Kikuchi-Fujimoto Disease
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasc... ORPHA:50918
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Fg Syndrome Type 1
Progressive flexion contractures, Abnormal large intestine morphology, Malrotation of colon, Pylo... ORPHA:93932
Hurler Syndrome
Recurrent respiratory infections, Hepatomegaly, Abnormal heart valve morphology, Angina pectoris,... ORPHA:93473
Interstitial Lung And Liver Disease
Hepatomegaly, Cough, Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmonary interst... OMIM:615486
Cardiac Valvular Dysplasia 1
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... OMIM:212093
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Pleural effusion, Gastroesophageal reflux, Chylothorax, Atrial se... OMIM:616843
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Sandifer Syndrome
Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit... ORPHA:71272
Schinzel-Giedion Syndrome
Respiratory distress, Sacrococcygeal teratoma, Streak ovary, Aganglionic megacolon, Nephroblastom... ORPHA:798
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... ORPHA:99880
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Feeding difficulties, Cardiomyopathy, Respiratory failure, Bone marrow hypocellular... ORPHA:445038
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Narrow... OMIM:602557
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... OMIM:603909
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Splenomegaly, Pat... OMIM:602782
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Mucolipidosis Type Ii
Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectases of the cheeks, Hepat... ORPHA:576
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertroph... OMIM:617713
Orofaciodigital Syndrome Type 4
Decreased testicular size, Recurrent respiratory infections, Monorchism, Camptodactyly of finger,... ORPHA:2753
Arboleda-Tham Syndrome
Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchidism, Gastroesophageal r... OMIM:616268
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... ORPHA:143
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Splenomegaly, Recurrent p... OMIM:608233
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga... ORPHA:95455
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... OMIM:608149
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Mediastinal lymphaden... ORPHA:91138
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Leukopenia, Interst... OMIM:127550
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... ORPHA:48435
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Patent ductus arteriosus, Absent pulmonary artery, Coarctation of aort... OMIM:600460
Japanese Encephalitis
Respiratory distress, Skeletal muscle atrophy, Irregular respiration, Neutrophilia, Facial palsy,... ORPHA:79139
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,... OMIM:212350
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Cholel... ORPHA:231222
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Apnea, Cardiomyopathy, Episodic vomiting, Inspiratory stridor OMIM:600721
Hypocalciuric Hypercalcemia, Familial, Type Ii
Multiple lipomas, Primary hyperparathyroidism, Peptic ulcer, Pancreatitis OMIM:145981
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Abdominal pain, Thrombocytopenia, Abdominal distention, Ne... ORPHA:2330
Kniest Dysplasia
Respiratory distress, Hip contracture, Tracheomalacia, Cleft palate, Recurrent otitis media OMIM:156550
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios OMIM:151210
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Myopathy, Neoplasm, Chr... ORPHA:169090
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Patent ductus arteriosus, Obesity, Cleft ... ORPHA:177907
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Failure to thrive, Protruding tongue, Obesity, Conotruncal defect, Coarctat... ORPHA:96147
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Opitz Gbbb Syndrome
Enlarged ovaries, Ventricular septal defect, Tracheomalacia, Congenital diaphragmatic hernia, Pat... ORPHA:2745
Colchicine Poisoning
Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Au... OMIM:613179
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Respiratory insufficiency OMIM:618241
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Recurrent respiratory infections, Apnea, Splenomegaly, Abnormal pulmonary interstit... OMIM:617050
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Aortic valve calcific... ORPHA:2072
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp... OMIM:617506
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Ventricular septal defect, Microvesicul... OMIM:619418
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy, Nausea ORPHA:37612
Hurler Syndrome
Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Flexion contr... OMIM:607014
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate... OMIM:605275
Myopathy, Myofibrillar, 4
Cardiomyopathy OMIM:609452
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... ORPHA:52430
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... ORPHA:79282
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate p... OMIM:224120
Rubinstein-Taybi Syndrome 1
Respiratory distress, Polyhydramnios, High, narrow palate, Flexion contracture, Aortic isthmus hy... OMIM:180849
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Inclusion body fibromatosis, Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale ORPHA:88630
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Hyperparathyroidism, Feeding difficulties, Ovarian cyst, Gastroesophageal r... OMIM:618188
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Intestinal pseudo-obstruction, Cardiac conduc... ORPHA:550
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive, Flexion contracture OMIM:618201
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... OMIM:612562
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Skeletal muscle atrophy, Angina pectoris, A... ORPHA:109
Ogden Syndrome
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula... OMIM:300855
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... OMIM:613244
Alg9-Cdg
Villous atrophy, Abnormal lung lobation, Right ventricular dilatation, Gastroesophageal reflux, A... ORPHA:79328
Dyskeratosis Congenita
Abnormality of neutrophils, Anorectal anomaly, Neoplasm, Periodontitis, Hepatomegaly, Abnormal te... ORPHA:1775
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:252011
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Atrial septal defect, Scimitar anomaly, Mesocardia, Coronary sin... OMIM:618280
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Homozygous Familial Hypercholesterolemia
Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid artery morphology, A... ORPHA:391665
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Splenomegaly, Elbow flexion contracture, Lacunar stroke, Macrogloss... OMIM:618440
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption ORPHA:3217
Auriculocondylar Syndrome
Respiratory distress, Hamartoma of tongue, Cleft palate, Feeding difficulties, Glossoptosis, Micr... ORPHA:137888
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Abnormal cardiac ventricular function, Feeding difficulties, Cardiomyopathy, Vomiti... ORPHA:2394
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ... OMIM:308230
Mosaic Trisomy 1
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Polyhydramni... ORPHA:1692
8Q24.3 Microdeletion Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Ventricular septal defect, Small for gestation... ORPHA:508488
Alport Syndrome
Dyspnea, Renal glomerular foam cells, Dysphagia, Stridor, Hypertension, Abnormal aortic morpholog... ORPHA:63
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Abd... ORPHA:99921
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Pachyonychia Congenita
Respiratory distress, Angular cheilitis, Steatocystoma multiplex, Feeding difficulties, Oral leuk... ORPHA:2309
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology... ORPHA:77293
Pagod Syndrome
Congenital diaphragmatic hernia, Sudden cardiac death, Situs inversus totalis, Pulmonary artery h... ORPHA:991
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Raynaud phenomenon, Vasculitis, Flexion contracture, Abnormal... ORPHA:90289
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin OMIM:212112
Hemochromatosis, Type 3
Cardiomyopathy, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypertrophic cardiomyopathy, Respiratory failure, Abnormal heart morpho... ORPHA:70472
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Achondroplasia
Respiratory distress, Upper airway obstruction, Feeding difficulties, Pulmonary hypoplasia, Recur... OMIM:100800
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract... OMIM:253200
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Congenital diaphragmatic hernia... ORPHA:1596
Fucosidosis
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Flexion contracture, ... OMIM:230000
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... OMIM:268800
Menke-Hennekam Syndrome 2
Chronic constipation, Recurrent upper respiratory tract infections, Duodenal ulcer OMIM:618333
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Infantile Liver Failure Syndrome 3
Hepatomegaly, Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, S... OMIM:618641
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Coarctation of aorta, M... ORPHA:371428
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Gastrointestinal dysmotility, Dysphagia, Cardiomegaly ORPHA:391428
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Cardiomegaly, Heart block, High, narrow palate, Hepa... ORPHA:228308
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Hypertrophic cardiomyopathy, Reduced vital capacity OMIM:608358
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Lysinuric Protein Intolerance
Hepatomegaly, Skeletal muscle atrophy, Nausea, Protein avoidance, Thrombocytopenia, Splenomegaly,... OMIM:222700
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Patent duct... ORPHA:96191
Malignant Migrating Focal Seizures Of Infancy
Failure to thrive, Aortopulmonary collateral arteries ORPHA:293181
Gaucher Disease
Feeding difficulties in infancy, Osteoarthritis, Hepatomegaly, Abnormal pericardium morphology, A... ORPHA:355
2Q37 Microdeletion Syndrome
Eczema, Congenital diaphragmatic hernia, Pyloric stenosis, Obesity, Abnormal aortic morphology, T... ORPHA:1001
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Congestive heart failure, Respiratory failure, Abnormal aort... ORPHA:1194
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Feeding difficulties in infancy, High palate, Respiratory distress ORPHA:438216
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Dysphagia, Coarctation of aorta ORPHA:280195
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Camptodactyly of finger, Th... OMIM:607015
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Macrocytic anemia, Feeding difficulties in infancy OMIM:619046
Joubert Syndrome 21
Apnea, Splenomegaly, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinus... OMIM:615636
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Feeding difficulties in infancy, Narrow palate, Anteriorly placed anus, Hyp... OMIM:123790
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ch... ORPHA:99827
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Anteriorly placed anus... OMIM:617159
Holoprosencephaly
Median cleft lip and palate, Ventricular septal defect, Abnormal pulmonary valve morphology, Fail... ORPHA:2162
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Pneum... OMIM:102700
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Abnormality of the liver, Respiratory failure, Muscular dystrophy, Hepatocellular... ORPHA:88618
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Protuberant abdomen OMIM:617102
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... OMIM:619991
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive, Palpebral edema, Polyhydramnios ORPHA:50810
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Facial hypotonia, Oral-phar... OMIM:615273
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiti... OMIM:251110
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Hypertension, Stroke OMIM:603903
Martsolf Syndrome 1
Recurrent respiratory infections, Cardiac arrest, Feeding difficulties in infancy, Congestive hea... OMIM:212720
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy, Respiratory insufficiency ORPHA:324525
Gaucher Disease Type 3
Recurrent respiratory infections, Mitral valve calcification, Hepatomegaly, Abnormal heart valve ... ORPHA:77261
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Combined Oxidative Phosphorylation Deficiency 52
Hypertrophic cardiomyopathy, Respiratory failure OMIM:619386
Vici Syndrome
Recurrent respiratory infections, Lymphopenia, Congestive heart failure, Dilated cardiomyopathy, ... OMIM:242840
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Respiratory insuffi... ORPHA:159
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, High palate, Atrioventricular canal ... OMIM:618929
Nasolacrimal Duct Cyst
Intercostal retractions, Chronic irritative conjunctivitis, Episodic respiratory distress, Strido... ORPHA:141083
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Primary hyperparathyroidism, Peptic ulcer, Pancreatitis OMIM:600740
Beck-Fahrner Syndrome
Facial hypotonia, High palate, Ventricular septal defect, Cardiomegaly OMIM:618798
Toriello-Carey Syndrome
Neonatal respiratory distress, Aganglionic megacolon, Feeding difficulties in infancy, Cryptorchi... ORPHA:3338
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Decreased muscle mass, Decreased response to growth hormone stimulation test, Poor appetite, Feed... ORPHA:96182
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Adnp Syndrome
Respiratory distress, Oral-pharyngeal dysphagia, Cryptorchidism, Recurrent upper respiratory trac... ORPHA:404448
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam... ORPHA:401768
Acrocardiofacial Syndrome
Mitral stenosis, Ventricular septal defect, Camptodactyly of finger, Cleft palate, Coarctation of... ORPHA:2008
Gm1 Gangliosidosis Type 1
Hepatosplenomegaly, Feeding difficulties, Macroglossia, Cardiomyopathy, Aspiration pneumonia ORPHA:79255
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Aplas... OMIM:617088
Bohring-Opitz Syndrome
Recurrent respiratory infections, Apnea, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion ... ORPHA:97297
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, High, narrow palate, Pyloric stenosis, Midgut malrotation, Cleft... ORPHA:2409
Carney Complex
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Neoplasm of the breast, Pap... ORPHA:1359
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Prune1-Related Neurological Syndrome
Hypertrophic cardiomyopathy, Respiratory insufficiency ORPHA:544469
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Villous atrophy, Pericarditis, Pericardial effusion, Feeding difficulties in infanc... OMIM:212065
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Panc... ORPHA:892
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, High, narrow palate, Gastrointestinal inflammation,... ORPHA:881
Gitelman Syndrome
Respiratory distress, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdomyol... ORPHA:358
Hereditary Hyperekplexia
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:3197
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... OMIM:116920
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Dysphagia, Testicular atrophy, Thromb... OMIM:222300
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenome... ORPHA:567983
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatic failure, ... OMIM:276700
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Pheochromocytoma, Myelodyspl... ORPHA:97685
Refsum Disease
Skeletal muscle atrophy, Heart block, Splenomegaly, Respiratory insufficiency, Cardiomyopathy ORPHA:773
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Hydrops fe... ORPHA:268249
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Dyspnea, Hypertrophic cardiomyopathy, Heart murmur OMIM:615418
Combined Oxidative Phosphorylation Deficiency 9
Dyspnea, Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Maternal Phenylketonuria
Ventricular septal defect, Esophageal atresia, Abnormal heart morphology, Coarctation of aorta, H... ORPHA:2209
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Tachypnea, Aortic valve atresia... OMIM:220111
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Rhabdomyolysis, Episodic abdominal pain, Cardiomyopathy, M... ORPHA:228305
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Palpebral edema, Recurrent bronchitis, Diastasis recti, Cardi... OMIM:252500
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Gastroesophageal reflux, Esophagitis, Feeding difficulties ORPHA:79350
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... ORPHA:309854
Combined Oxidative Phosphorylation Deficiency 57
Apnea, Central hypoventilation, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Hy... OMIM:620167
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Feeding difficulties, Cardiomyopathy, Myopathy, Respiratory failure, Decreased live... OMIM:614922
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Ventricular septal defect, In... ORPHA:353281
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Anemia, Vomiti... OMIM:251100
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Contracture of the distal interphalan... OMIM:114290
Kaufman Oculocerebrofacial Syndrome
Neonatal respiratory distress, Ventricular septal defect, Intestinal malrotation, Coarctation of ... OMIM:244450
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Congestive heart failure,... ORPHA:90033
Mcleod Syndrome
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Rhabdomyolysis, Dilated cardiomy... OMIM:300842
Kabuki Syndrome 2
Cleft palate, Coarctation of aorta, High palate, Pulmonic stenosis, Decreased body weight, Atrial... OMIM:300867
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Pseudotrisomy 13 Syndrome
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a... OMIM:264480
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fibrosis, Esophagitis, Hepatic fai... ORPHA:541423
Combined Oxidative Phosphorylation Deficiency 41
Nonimmune hydrops fetalis, Cardiomegaly OMIM:618838
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun... ORPHA:3208
Isolated Biliary Atresia
Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic ... ORPHA:30391
Restrictive Dermopathy
Multiple joint contractures, Dextrocardia, Camptodactyly of finger, Aplasia/Hypoplastia of the ec... ORPHA:1662
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Bifid uvula, Cleft palate OMIM:183900
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... OMIM:182250
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... OMIM:618733
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Exertional dyspnea ORPHA:90037
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... OMIM:618748
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Apl... ORPHA:175
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Myocardial infarction, Stroke, Transient ischemic attack OMIM:274150
Bone Dysplasia, Lethal Holmgren Type
Atrial septal defect, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Respiratory ... ORPHA:1842
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Cantú Syndrome
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial palsy, High, narrow palate, Submucous cleft hard palate, Cleft palate, Coarctation of aort... ORPHA:2780
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy, High palate, Skeletal muscle atrophy OMIM:620089
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatomegaly, Villous atrophy, Ventricular septal defect, Increased mean pl... OMIM:222470
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... OMIM:610655
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Splenomegaly, Feeding difficulties, Hypertension, Gastroesophageal reflux, High palat... OMIM:617913
Niemann-Pick Disease Type C
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Apla... ORPHA:646
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Microcolon OMIM:619362
Trichothiodystrophy
Congenital exfoliative erythroderma, Multiple joint contractures, Ventricular septal defect, Ecze... ORPHA:33364
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Apnea, Seborrheic dermatitis, Feeding difficu... OMIM:253260
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Myhre Syndrome
Ventricular septal defect, Small for gestational age, Pericardial effusion, Patent ductus arterio... OMIM:139210
Developmental And Epileptic Encephalopathy 75
Feeding difficulties in infancy, Cardiomyopathy, Decreased liver function, Prolonged neonatal jau... OMIM:618437
Loeys-Dietz Syndrome 1
Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial... OMIM:609192
Smith-Lemli-Opitz Syndrome
Facial capillary hemangioma, Gastrointestinal dysmotility, Abnormal lung lobation, Gastroesophage... OMIM:270400
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Apnea, Respiratory insufficiency OMIM:614462
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hodgkin lymphoma, Fee... ORPHA:2896
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Chronic diarrhea, Aplasia of the sw... OMIM:612132
Autosomal Recessive Robinow Syndrome
Recurrent respiratory infections, Ventricular septal defect, Abnormal pulmonary valve morphology,... ORPHA:1507
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Astrocytoma, Acute pancreatitis, Lymphoma, Abnormal ... ORPHA:79086
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Abnormal lung morphology, Pedal edema, Weight... ORPHA:449395
Pearson Syndrome
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... ORPHA:699
Fucosidosis
Hepatomegaly, Decreased muscle mass, Failure to thrive, Cardiomegaly ORPHA:349
Fanconi Anemia
Meckel diverticulum, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Patent ductus arteri... ORPHA:84
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the ... OMIM:300989
Jacobsen Syndrome
Recurrent respiratory infections, Ventricular septal defect, Intestinal malrotation, Eczema, Pylo... ORPHA:2308
Mowat-Wilson Syndrome
Bicuspid aortic valve, Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Flexion contrac... ORPHA:2152
Biotinidase Deficiency
Respiratory distress, Skin rash, Apnea, Conjunctivitis, Limb muscle weakness, Eczematoid dermatit... ORPHA:79241
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Facial palsy, Hepatomegaly ORPHA:772
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Reynolds Syndrome
Gastrointestinal hemorrhage, Calcinosis, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice... OMIM:613471
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Dyspnea, Primary hyperpa... OMIM:239200
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... ORPHA:2463
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy ORPHA:119
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Feeding difficulties, Cardiomyopathy, Generalized amyotrophy, Thrombocyt... OMIM:617710
Multiple Myeloma
Splenomegaly, Functional abnormality of the gastrointestinal tract, Lymphadenopathy, Pleural effu... ORPHA:29073
Blau Syndrome
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Abnormal saliva... ORPHA:90340
Noonan Syndrome 1
Ventricular septal defect, Failure to thrive in infancy, Lymphedema, High, narrow palate, Patent ... OMIM:163950
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Neonatal respiratory distress, Rhabdomyolysis, Hepatic calcification, Episodic abdo... ORPHA:157
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Patent ductus arteriosus, Mitral stenosis, Respiratory insufficiency, Coarctation of aorta OMIM:617260
Bent Bone Dysplasia Syndrome 2
Hepatomegaly, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Short ribs, ... OMIM:620076
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, High, narrow palate, Cryptorchidism, Submucous cle... ORPHA:2554
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Mitochondrial Complex I Deficiency, Nuclear Type 29
Dyspnea, Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myopathy, Respiratory failure, Steatorrhea,... ORPHA:14
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Galloway-Mowat Syndrome 3
Edema, Hiatus hernia, Coarctation of aorta, Hypertension, High palate, Camptodactyly, Failure to ... OMIM:617729
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cyst of the ductus choledochus, Cleft palate, Feeding difficulties, Cardiom... ORPHA:480880
Ctcf-Related Neurodevelopmental Disorder
Small for gestational age, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Mitral r... ORPHA:363611
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Arterial tortuosity, Patent d... ORPHA:284984
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Polyhydramnios, High palate, Gastroesophageal reflux, Atrial septal defect... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Polyhydramnios, High palate, Gastroesophageal reflux, Atrial septal defect... ORPHA:353277
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Respiratory insuffi... ORPHA:98853
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Flexion contracture, Conjunctivitis, He... OMIM:256040
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy ORPHA:1215
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Patent ductus arteriosus, Cleft palat... OMIM:618454
Meckel Syndrome, Type 1
Accessory spleen, Intestinal malrotation, Camptodactyly of finger, Malformation of the hepatic du... OMIM:249000
Yunis-Varon Syndrome
Ventricular septal defect, Polyhydramnios, Cardiomegaly, High, narrow palate, Pyloric stenosis, I... ORPHA:3472
Spondyloocular Syndrome
Duodenal ulcer, Unilateral cryptorchidism, Mitral valve prolapse, Atrial septal defect, Dysplasti... OMIM:605822
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Splen... ORPHA:667
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
9Q33.3Q34.11 Microdeletion Syndrome
Epistaxis, Cryptorchidism, Asthma, Telangiectasia, Constipation, Esophagitis, Dysphagia ORPHA:495818
Beckwith-Wiedemann Syndrome
Congenital diaphragmatic hernia, Cardiomegaly, Feeding difficulties in infancy, Leiomyosarcoma, N... ORPHA:116
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Cleft palate, Narrow palate, Feeding difficulties, Hig... ORPHA:79500
Arteriosclerosis, Severe Juvenile
Anemia, Hypertension, Gastric ulcer, Myocardial infarction OMIM:208060
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Failure to thrive, Polyhydramnios, Congestive heart failure, Ascites OMIM:617156
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Chilblains, Cardiomegaly, Raynaud phenomenon, Calcificatio... ORPHA:51
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Lipoma, Pancreatitis ORPHA:405
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, High palate, Generalized amyotrophy, Dysphagia, Thrombocytopenia, Limb hypertonia ORPHA:572798
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Gastrointestinal dysmotility, Asthma, Nasal flaring, Feeding difficulties, Constipation, Gastroes... ORPHA:466943
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo... OMIM:618222
Alagille Syndrome 1
Failure to thrive, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis... OMIM:118450
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Hypoplasia of the Le... ORPHA:64
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... OMIM:619534
Neutral Lipid Storage Myopathy
Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failur... ORPHA:98908
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Camptodactyly of finger, Feeding difficulties in infancy, Asthma, Fl... ORPHA:3206
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Orofaciodigital Syndrome Vi
Hamartoma of tongue, Cleft palate, Coarctation of aorta, Tongue nodules, Lobulated tongue, High p... OMIM:277170
Aspartylglucosaminuria
Recurrent respiratory infections, Hepatomegaly, Malabsorption, Splenomegaly, Macroglossia, Arthri... ORPHA:93
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Pituitary prolactin cell adenoma, Pitu... ORPHA:99725
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Feeding difficulties, Limb-girdle muscular dystrophy, Esophagitis, Achalasia, Hepat... OMIM:615356
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Congenital diaphragmatic hernia, High, narrow palate, Neoplasm, Atrial septa... ORPHA:373
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff... ORPHA:363623
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Supraventricular arrhythmia, Sudden cardiac death, Respiratory insuffi... ORPHA:98863
Craniorachischisis
Bifid sternum ORPHA:63260
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy, Dysphagia ORPHA:95
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cleft palate, Hypertrophic cardiomyopathy, Bifid uvula OMIM:612938
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Cleft palate, Coarctatio... OMIM:105650
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Beckwith-Wiedemann Syndrome
Hepatomegaly, Diastasis recti, Cardiomegaly, Adrenocortical carcinoma, Cryptorchidism, Pancreatic... OMIM:130650
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Costello Syndrome
Ventricular septal defect, Narrow palate, Mitral valve prolapse, Macroglossia, Papilloma, Pulmoni... ORPHA:3071
Dermatosparaxis Ehlers-Danlos Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia ORPHA:1901
Oculoectodermal Syndrome
Transient ischemic attack, Lymphedema, Patent ductus arteriosus, Coarctation of aorta, Atrial sep... OMIM:600268
Kearns-Sayre Syndrome
Hypoparathyroidism, Sideroblastic anemia, Ragged-red muscle fibers, Cardiomyopathy, Third degree ... OMIM:530000
Coffin-Siris Syndrome 1
Recurrent respiratory infections, Duodenal ulcer, Intestinal malrotation, Ventricular septal defe... OMIM:135900
Mullegama-Klein-Martinez Syndrome
Facial palsy, Congenital diaphragmatic hernia, Cleft palate, Coarctation of aorta, Submucous clef... OMIM:301022
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Ulbright-Hodes Syndrome
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, High palate, Pulmonary h... ORPHA:3404
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... ORPHA:99901
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypo... OMIM:274000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Failure to thrive, Ventricular septal defect, Shoulder flexion contracture, Musc... OMIM:210710
Blomstrand Lethal Chondrodysplasia
Polyhydramnios, Protruding tongue, Hydrops fetalis, Coarctation of aorta, Pulmonary hypoplasia ORPHA:50945
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Neonatal respiratory distress, Intestinal ... ORPHA:666
Kabuki Syndrome 1
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Malabsorption, Cleft palate, Co... OMIM:147920
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Gastrointestinal infarctions, Internal hemorrhage, Peripheral arteriovenous ... ORPHA:286
Gabriele-De Vries Syndrome
Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, High palate, Patent ... OMIM:617557
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Absent nipple, Eczema, Aplasia/Hypoplastia of the eccrine sweat glands, Rhi... OMIM:305100
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Cardiomyopathy ORPHA:521411
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Robinow Syndrome
Ventricular septal defect, Small for gestational age, Bifid tongue, Coarctation of aorta, Abnorma... ORPHA:97360
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Ventricular septal defect, Intestinal malrotatio... ORPHA:2729
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, High, narrow palate, Cleft palate, Narrow pa... OMIM:119600
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism, High palate, Camptodactyly of finger OMIM:166250
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Facia... ORPHA:508498
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy OMIM:618839
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Cardiomyopathy, Myopathy, Shoulder girdle muscle weakness, ... ORPHA:98907
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent respiratory infections, Bicuspid aortic valve, Ventricular septal ... ORPHA:363958
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Recurrent pneum... ORPHA:99646
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... OMIM:230500
Zimmermann-Laband Syndrome 1
Hepatomegaly, Splenomegaly, Gingival fibromatosis, Cardiomyopathy, Gastroesophageal reflux, High ... OMIM:135500
Rodrigues Blindness
Nasal flaring OMIM:268320
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Furrowed tongue, Macroglossia, Cardiomyopathy, High ... ORPHA:769
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... ORPHA:79280
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Patent ductu... OMIM:614557
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septa... OMIM:612474
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Hepatomegaly, Splenomegaly, Flexion contracture, Subdural hemorrhage, Re... ORPHA:90324
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Duodenal ulcer, Periodontitis ORPHA:722
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft palate, Coarctation of aorta, Gl... OMIM:616145
Kabuki Syndrome
Congenital diaphragmatic hernia, Obesity, Cleft palate, Coarctation of aorta, Abnormal cardiac se... ORPHA:2322
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy... OMIM:616084
Pallister-Hall Syndrome
Ventricular septal defect, Large for gestational age, Patent ductus arteriosus, Abnormal lung lob... ORPHA:672
Sacral Defect With Anterior Meningocele
Constipation, Sacral lipoma, Rectal abscess OMIM:600145
Johanson-Blizzard Syndrome
Colonic diverticula, Hepatomegaly, Ventricular septal defect, Portal hypertension, Malabsorption,... OMIM:243800
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Myelodysplasia, Congestive heart failure, ... ORPHA:508542
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy, Exertional dyspnea ORPHA:436271
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Mitral valve prolapse, High palate, ... OMIM:609942
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Feeding difficulties, Cardiomyopathy, Myopathy, Weakness of facial musculature OMIM:201470
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Ventricular septal defect, Schwannoma, Ossifying fibroma, Abnormal heart morphology, M... ORPHA:363700
Nicolaides-Baraitser Syndrome
Recurrent respiratory infections, Eczema, High, narrow palate, Coarctation of aorta, Failure to t... OMIM:601358
Pmm2-Cdg
Respiratory distress, Pericarditis, Multiple joint contractures, Angina pectoris, Elevated circul... ORPHA:79318
Combined Oxidative Phosphorylation Deficiency 37
Hypertrophic cardiomyopathy, Respiratory failure, Respiratory insufficiency OMIM:618329
Loeys-Dietz Syndrome
Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, High pala... ORPHA:60030
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy OMIM:618835
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Bicuspid aortic valve, Obesity, Coarctation of aorta, High pa... ORPHA:1772
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial palsy, Gastroesoph... OMIM:619480
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertension, Hypertrophic cardiomyopathy, Respiratory insufficiency, Arrhythmia OMIM:614052
Costello Syndrome
Ventricular septal defect, Tracheomalacia, Rhabdomyosarcoma, Pyloric stenosis, Pneumothorax, Blad... OMIM:218040
Schimmelpenning-Feuerstein-Mims Syndrome
Coarctation of aorta OMIM:163200
Occipital Horn Syndrome
Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Gastroesopha... ORPHA:198
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Arthritis, Gastric ulcer, Gastric hypertrophy OMIM:161700
Pallister-Killian Syndrome
Edema of the dorsum of feet, Congenital diaphragmatic hernia, Polyhydramnios, Flexion contracture... OMIM:601803
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Splenomegaly, Generalized muscular appearance from birth, Polyc... OMIM:608594
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Floating-Harbor Syndrome
Small for gestational age, Celiac disease, Tetralogy of Fallot, Coarctation of aorta, Gastroesoph... ORPHA:2044
Floating-Harbor Syndrome
Celiac disease, Atopic dermatitis, Coarctation of aorta, Atrial septal defect, Mesocardia, Persis... OMIM:136140
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Failure to thrive, Bicuspid aortic valve, Pulmonary artery sling, Abnormal pulmonary valve morpho... ORPHA:261537
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Cleft palate, Mitral valve prolapse,... OMIM:151100
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Atria... OMIM:617403
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Cleft hard palate, Flexion contracture, Abnormality of the pulmonary arter... ORPHA:261552
Isolated Arrhinia
Respiratory distress ORPHA:1134
Yunis-Varon Syndrome
Absent nipple, Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Heart murmur, Feeding... OMIM:216340
Craniofacial Microsomia 1
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Cleft pala... OMIM:164210

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ltbp4

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ltbp4.

No publications found that use IMPC mice or data for Ltbp4.

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MGI Allele Allele Type Produced
Ltbp4em1(IMPC)Tcp Inter-exon deletion Mice
Ltbp4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ltbp4tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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