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Gene: Ada MGI:87916

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

adenosine deaminase

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ada 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.

Human diseases associated with Ada (3 diseases)
Human diseases predicted to be associated with Ada (894 diseases)

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

Disease	Matching phenotypes	Source
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Failure to thrive, B lymphocytopenia, Lymphopenia	ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune hemolytic ...	OMIM:102700
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Desquamation of skin soon afte...	ORPHA:39041

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

Disease	Matching phenotypes	Source
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Prematur...	ORPHA:70589
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Intrahepatic cholestasis, Intermittent jaun...	OMIM:601847
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ...	OMIM:602347
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El...	OMIM:235555
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Cholestasis, Intrahepatic, Of Pregnancy, 1	Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ...	OMIM:147480
Hemochromatosis, Neonatal	Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser...	OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Jaundi...	OMIM:619849
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Cholestasis, Intrahepatic, Of Pregnancy 3	Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice	OMIM:614972
Cholestasis, Progressive Familial Intrahepatic, 4	Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure	OMIM:615878
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce...	OMIM:605479
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Abnormal lung morphology, Abnormal heart morphol...	ORPHA:439167
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin...	OMIM:619484
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo...	OMIM:265450
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Postterm pregnancy,...	ORPHA:70588
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Pancytopenia, Sp...	OMIM:603553
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Caroli Disease	Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Mednik Syndrome	Intrahepatic cholestasis, Abnormal intestine morphology	ORPHA:171851
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega...	ORPHA:2414
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ...	OMIM:603554
Dengue Fever	Hepatomegaly, Thrombocytopenia, Leukopenia, Bruising susceptibility, Hypoproteinemia, Petechiae	ORPHA:99828
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent...	ORPHA:324604
Irida Syndrome	Intrahepatic cholestasis, Abnormal intestine morphology	ORPHA:209981
Pulmonary Hypertension, Primary, 5	Angina pectoris, Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary art...	OMIM:265400
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra...	ORPHA:139507
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmona...	OMIM:612387
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, P...	OMIM:619003
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Fai...	ORPHA:79320
Lymphangiectasia, Intestinal	Lymphopenia, Stillbirth, Neonatal hypoproteinemia	OMIM:152800
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-...	ORPHA:79126
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:614887
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Reduced proportion of CD4+ effector memory T cells, Hypoalbumin...	ORPHA:90362
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ...	ORPHA:422
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, Eleva...	OMIM:608104
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Erythroderma, Lethal Congenital	Death in infancy, Failure to thrive, Hypoalbuminemia	OMIM:227090
Kennedy Disease	Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of...	ORPHA:860
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F...	ORPHA:79319
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ...	ORPHA:353
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemi...	OMIM:241600
Enterokinase Deficiency	Failure to thrive, Hypoproteinemia	OMIM:226200
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Atelectas...	ORPHA:2902
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:26793
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure	ORPHA:60
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Dyspnea, Congestive heart failu...	ORPHA:275766
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Death in infancy, Elevated circulating creatine kinase concentration, Hyperammonemi...	OMIM:201475
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Weight loss, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Ane...	OMIM:209950
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Congenital Lethal Erythroderma	Urticaria, Death in infancy, Failure to thrive, Hypoalbuminemia	ORPHA:1954
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneu...	ORPHA:2357
Asbestos Intoxication	Cyanosis, Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interst...	ORPHA:2302
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infections	OMIM:608971
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Microvesicu...	OMIM:613070
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Death in childhood...	OMIM:602579
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Foot joint contracture, Pulmonary fibrosis, Pulmonary arterial hypert...	ORPHA:220402
Stuve-Wiedemann Syndrome 2	Respiratory distress, Congestive heart failure, Camptodactyly, Pulmonary arterial hypertension, T...	OMIM:619751
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula...	ORPHA:2041
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Hepatospleno...	ORPHA:367
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Neutr...	ORPHA:1667
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Premat...	ORPHA:555874
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Ventricula...	OMIM:601005
Congenital Disorder Of Glycosylation, Type Ij	Elevated hepatic transaminase, Cryptorchidism, Jaundice, Hypoproteinemia	OMIM:608093
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:617093
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Hypoxemia, Pulmonary edema	ORPHA:70587
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Increased circulating lactat...	ORPHA:824
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int...	ORPHA:100085
Congenital Analbuminemia	Small for gestational age, Miscarriage, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoal...	ORPHA:86816
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Intrahepati...	ORPHA:333
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, Pulmonary arterial hyp...	OMIM:212350
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Intrahepatic cholestasis, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:619685
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Pulmonary Arteriovenous Malformation	Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspne...	ORPHA:2038
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Hypoproteinemia	OMIM:207731
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonary arterial hypertension, Pulmonic ...	OMIM:616028
Surfactant Metabolism Dysfunction, Pulmonary, 3	Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat...	OMIM:610921
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir...	ORPHA:98915
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Heparin-Induced Thrombocytopenia	Cerebral ischemia, Autoimmune thrombocytopenia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Johanson-Blizzard Syndrome	Death in infancy, Abnormality of the pancreas, Failure to thrive, Hypoproteinemia, Anemia, Exocri...	ORPHA:2315
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Carcinoid Syndrome	Elevated hepatic transaminase, Abnormal B-type natriuretic peptide concentration, Hepatic necrosi...	ORPHA:100093
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age	OMIM:256300
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit...	ORPHA:3287
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ...	OMIM:617021
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Death in infancy, Conjugated ...	OMIM:617156
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc...	OMIM:613490
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Avian Influenza	Elevated hepatic transaminase, Miscarriage, Elevated circulating creatine kinase concentration, E...	ORPHA:454836
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Death in infancy, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Hypoca...	OMIM:235255
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie...	OMIM:620233
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Dyspnea, Thrombocytopenia, Splenomegaly, Ab...	OMIM:230800
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Petechiae, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:614921
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Hepatomegaly, Malabsorption, Splenomegaly, Anemia	ORPHA:100025
Congenital Tracheomalacia	Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing...	ORPHA:95430
Scimitar Syndrome	Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona...	ORPHA:185
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity	ORPHA:88643
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Citrullinemia, Type Ii, Neonatal-Onset	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:605814
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ground-glass opacification, Atelectasis, Pulmonary infiltrates,...	OMIM:610978
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukopenia, Inter...	OMIM:127550
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Myo...	ORPHA:81
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Sickle Cell Disease	Priapism	OMIM:603903
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Increased circulating lactate dehydrog...	ORPHA:254361
Perching Syndrome	Cyanosis, High palate, Dysphagia	OMIM:617055
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat...	ORPHA:167
Somatostatinoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Intr...	ORPHA:97283
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria...	OMIM:300887
Grfoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Intr...	ORPHA:97261
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Increased B cell count,...	OMIM:619924
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas...	OMIM:227810
Leigh Syndrome	Failure to thrive, Hepatocellular necrosis	OMIM:256000
Hurler-Scheie Syndrome	Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Camptodactyly of finger, Th...	OMIM:607015
Analbuminemia	Patent ductus arteriosus, Elevated circulating transferrin concentration, Increased LDL cholester...	OMIM:616000
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperammonemia, Choles...	ORPHA:292
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Neonatal death, Elevated circulating glutaric acid concentration, Hepatic...	OMIM:231680
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Hepatomegaly, Anisocytosis, ...	OMIM:618278
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Premature birth, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Respirato...	OMIM:613845
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Apnea, Polyhydramnios, Type 1 muscle fiber predominance, Increased variability in muscle fiber di...	OMIM:612949
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Erythema, Extrah...	ORPHA:97282
Glucagonoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Acan...	ORPHA:97280
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis	OMIM:231530
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Hepatosplenomegaly, Hypo...	ORPHA:1655
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Pancreatic insufficiency, combined exocrine	Hypoproteinemia, Exocrine pancreatic insufficiency	OMIM:260450
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Ppoma	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Intr...	ORPHA:97278
Braddock Syndrome	Congenital muscular torticollis, Neonatal respiratory distress, Pulmonary arterial hypertension, ...	ORPHA:52047
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau...	ORPHA:186
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Silver-Russell Syndrome Due To A Point Mutation	Asthma, Small placenta, Oligohydramnios	ORPHA:397590
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Alg1-Cdg	Hypoalbuminemia, Decreased liver function	ORPHA:79327
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Hypoglycinemia, Hyposerinemia	OMIM:610992
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi...	OMIM:246700
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent...	OMIM:106700
Overlap Myositis	Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Raynaud phenomenon,...	ORPHA:206572
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron...	ORPHA:980
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Atelectasis, Flexion contra...	ORPHA:258
Cirrhotic Cardiomyopathy	Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C...	ORPHA:57777
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbumi...	ORPHA:67
Kagami-Ogata Syndrome	Hepatomegaly, Premature birth, Diastasis recti, Polyhydramnios, Ventricular septal defect, Spleno...	OMIM:608149
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, R...	ORPHA:171445
Idiopathic Bronchiectasis	Crackles, Productive cough, Myocardial infarction, Dyspnea, Wheezing, Respiratory tract infection...	ORPHA:60033
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Tachypnea, Normochromic anemia, Neutropenia, Atrial septal defect, Pulmonary arterial hypertensio...	OMIM:614857
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly	OMIM:619064
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Neonatal omphalitis, Leukopenia, Hypoplasia of the thymus, Neutrop...	OMIM:612541
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Low plasma c...	OMIM:261680
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha...	ORPHA:3348
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki...	ORPHA:26791
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Waardenburg Syndrome Type 3	Atelectasis, Acrocyanosis	ORPHA:896
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoa...	ORPHA:171
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Liver Disease, Severe Congenital	Biliary hyperplasia, Leukopenia, Hypocalcemia, Lymphocytosis, Elevated hepatic iron concentration...	OMIM:619991
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti...	OMIM:606812
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Pulmonary arterial hypertension, Flexion contracture, Recurrent upper respiratory tract infection...	ORPHA:391372
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, High palate, Death in infancy	OMIM:300219
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Myositis, Pericarditis, Hepatomegaly, Dyspnea, Myo...	ORPHA:809
Coenzyme Q10 Deficiency, Primary, 2	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation	OMIM:614651
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Dyspnea, Congestive heart failure, Flexion contracture, Pulmonary fib...	ORPHA:220393
Immunodeficiency 76	Splenomegaly, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia	OMIM:619164
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Lathosterolosis	Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, High p...	ORPHA:46059
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte...	OMIM:619487
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Interstitial Pneumonitis, Desquamative, Familial	Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Cyanosis, Ty...	OMIM:263000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans...	OMIM:256810
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pul...	ORPHA:199241
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn...	ORPHA:60032
Atrial Septal Defect 9	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:614475
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Polyhydramnios, Parachute mitral valve, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Gaisböck Syndrome	Plethora, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin c...	ORPHA:90041
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Poo...	ORPHA:101330
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho...	ORPHA:244
Craniofaciofrontodigital Syndrome	Persistent fetal circulation, Respiratory distress, Gastrointestinal hemorrhage, Premature birth,...	ORPHA:363705
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Elevated circ...	OMIM:214900
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoalbuminemia, Bile duct proliferation, Macrovesicular hepatic s...	OMIM:618329
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Thrombocytopenia, Neutropenia, Leukopenia, ...	OMIM:617303
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Pulmonary embolism	ORPHA:82
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Trichohepatoenteric Syndrome 1	Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Splen...	OMIM:222470
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Prematurely aged appearance, Cachexia, Death in...	OMIM:610965
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ...	ORPHA:77259
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, T lymphocytopenia, Hypo...	OMIM:300400
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Accessory spleen, Morgagni diaphragmatic hernia, Breech pres...	OMIM:613177
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Abnormal subcutaneous fat tissue d...	OMIM:212065
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H...	ORPHA:2070
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Congenital Fibrinogen Deficiency	Tachycardia, Splenic rupture, Left ventricular hypertrophy, Internal hemorrhage, Right ventricula...	ORPHA:335
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
High Altitude Pulmonary Edema	Cyanosis, Leukocytosis, Hypoxemia, Pulmonary opacity, Pulmonary edema	ORPHA:330012
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Hepatic failure, Cirrhosis, Portal hypertension	OMIM:210050
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Hemochromatosis, Type 3	Impotence, Hypogonadotropic hypogonadism, Amenorrhea	OMIM:604250
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs...	OMIM:615344
Chronic Diarrhea Due To Glucoamylase Deficiency	Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Abn...	ORPHA:103907
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Premature birth, Abnormal pulmonary valve morphology,...	ORPHA:974
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc...	ORPHA:70591
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Hypoplasia of the thymus, Death in childhood, Death in infancy, Leukocytosis, Hema...	OMIM:243150
Neuralgic Amyotrophy	Acrocyanosis, Cleft palate	ORPHA:2901
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Al Amyloidosis	Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Ab...	ORPHA:85443
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ...	ORPHA:3384
Schimke Immunoosseous Dysplasia	Pancytopenia, Transient ischemic attack, Abnormal immunoglobulin level, Dyspnea, Thrombocytopenia...	OMIM:242900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi...	ORPHA:37042
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Schimke Immuno-Osseous Dysplasia	Premature birth, Transient ischemic attack, Impaired T cell function, Congestive heart failure, T...	ORPHA:1830
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Pancreatic Colipase Deficiency	Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi...	ORPHA:309108
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Bronchiectasis, Microvillar...	OMIM:619445
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Small for gestational age, Elevated circulating creatine kinase concentration, ...	OMIM:619055
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Atrial septal defect, Left-to-right shunt, Ventricular septal d...	ORPHA:99050
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension	OMIM:619059
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Leukopenia, Atrial septal defect, Decreased circulatin...	ORPHA:505248
Hjv Or Hamp-Related Hemochromatosis	Impotence, Hypogonadism	ORPHA:79230
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small placenta	ORPHA:73272
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile...	OMIM:619079
Gaucher Disease Type 3	Recurrent respiratory infections, Pancytopenia, Hepatomegaly, Mitral valve calcification, Abnorma...	ORPHA:77261
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux	Impotence	OMIM:608088
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Attrv30M Amyloidosis	Impotence	ORPHA:85447
Agammaglobulinemia 4, Autosomal Recessive	Neutropenia, Recurrent pneumonia, Protein-losing enteropathy, Abnormal T cell morphology	OMIM:613502
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i...	OMIM:608751
Acute Transverse Myelitis	Priapism, Abnormal libido	ORPHA:139417
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Intraalveolar phospholipid a...	OMIM:610910
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Sepsis In Premature Infants	Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen...	ORPHA:90051
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Atelectasis, Recurrent pneumonia, Air bronchogram, Imp...	OMIM:306400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Tachypnea, Hypertension, Cardiomegaly	OMIM:613320
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Death in infancy, Villous atrophy, Abnormal intestine morphology	OMIM:251850
Mitchell-Riley Syndrome	Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol...	OMIM:615710
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve...	ORPHA:210122
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Aplasia/Hypopla...	ORPHA:3309
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Moyamoya Disease 6 With Or Without Achalasia	Impotence	OMIM:615750
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Failure to ...	ORPHA:14
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Elevated circulating acylcarnitine concent...	ORPHA:159
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Hepato...	ORPHA:75249
Pituicytoma	Impotence, Decreased female libido, Hypogonadotropic hypogonadism, Amenorrhea	ORPHA:251623
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund...	ORPHA:268
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Bradycardia, Pulmonary arterial hypertension	OMIM:619272
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Failure to thrive, Cyanosis	ORPHA:91130
Burkitt Lymphoma	Abnormality of the pancreas, Abnormality of the spleen, Abnormality of the liver, Hyperuricemia, ...	ORPHA:543
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Abscess, Peritonitis, Elevated circulating cr...	ORPHA:36234
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Tricuspid regurgitation, Sinus tachycardia, Pneumonia, Splenomegaly, Flexion contra...	OMIM:253200
Cryptogenic Organizing Pneumonia	Neutrophilia, Cyanosis, Ground-glass opacification, Leukocytosis, Pneumothorax, Hypoxemia	ORPHA:1302
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis	ORPHA:71277
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Leukocytosis, Thromb...	ORPHA:90060
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bac...	ORPHA:97214
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Polyhydramnios, Large placenta, Abnormal heart morpho...	ORPHA:254534
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Oligohydramnios, Atrial septal defect, Arthrogryposis multiplex congen...	OMIM:208085
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Intraalveolar pho...	OMIM:618042
Zygomycosis	Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Colitis, Neutr...	ORPHA:73263
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy	OMIM:614261
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Respiratory failure, Facial paralysis, Respiratory insufficiency	OMIM:605711
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen...	ORPHA:71493
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce...	ORPHA:169154
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Increased proportion of transitional B cells, T lymphocytopenia, Decreased proporti...	OMIM:615513
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Atelect...	ORPHA:319213
Ciliary Dyskinesia, Primary, 1	Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Recurrent bronchitis	OMIM:244400
Immunodeficiency 19	T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo...	OMIM:615617
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Eosinophilia, Atelectasis, Cleft palate, Generalized abnormalit...	ORPHA:2314
Whim Syndrome	Abnormal small intestine morphology, Pneumonia, Respiratory tract infection, Atelectasis, Recurre...	ORPHA:51636
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab...	OMIM:187300
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N...	ORPHA:572
Poems Syndrome	Thrombocytosis, Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restricti...	ORPHA:2905
Mednik Syndrome	Death in infancy, Jejunal atresia, Erythema, Cholestasis, Hepatic fibrosis, Cirrhosis, Death in c...	OMIM:609313
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula...	ORPHA:209905
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Abnormality of T cell physiology, Pancytopenia, Pericardial effusion, Dyspnea, Sple...	OMIM:181000
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Recurrent respiratory infections, Protein-losing enteropathy	OMIM:619063
Scorpion Envenomation	Priapism	ORPHA:466677
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab...	OMIM:600376
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Decreased muscle mass, Hip contracture, Premature birth, Nonimmune hydr...	OMIM:208150
Systemic Sclerosis	Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Dyspnea, My...	ORPHA:90291
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic...	OMIM:259720
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype...	ORPHA:1345
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Brain abscess, Breech presentation, Congestive heart failure...	OMIM:616482
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Abnormal circulating fatty-acid concentration, Biliary cirrhosis, Inc...	ORPHA:2298
Reni Syndrome	Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism	OMIM:617575
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Atelectasis, Patent duct...	OMIM:269860
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Ventricular septal defect	ORPHA:447980
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Diastasis recti, Polyhydramnios, Large placenta, Flexion contracture, Macroglossia, Respiratory f...	ORPHA:254528
Autosomal Dominant Spastic Paraplegia Type 19	Female sexual dysfunction, Male sexual dysfunction	ORPHA:100999
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st...	OMIM:300048
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Anemia, Premature graying of hair, Pulmonary fibrosis, Emphysema, Lymphopeni...	OMIM:620365
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Oligohydramnios, Hepatosplenomegaly, Atrial septal d...	OMIM:267010
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Small for gestational age, Slender build, Portal hyp...	OMIM:613658
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Hemochromatosis, Type 4	Impotence	OMIM:606069
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept...	OMIM:608758
Acquired Purpura Fulminans	Elevated circulating C-reactive protein concentration, Macular purpura, Hepatic failure, Acrocyan...	ORPHA:49566
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Microcytic anemia, Congestive hear...	ORPHA:90308
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of...	ORPHA:221
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hy...	ORPHA:90062
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Carey-Fineman-Ziter Syndrome 1	Decreased fetal movement, Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, F...	OMIM:254940
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Intraalveolar phospholipid accumulation, Hypoxemia, Increased cir...	ORPHA:747
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart ...	OMIM:612098
Histiocytosis-Lymphadenopathy Plus Syndrome	Atrial septal defect, Hepatomegaly, Ventricular septal defect, Camptodactyly of finger, Cardiomeg...	OMIM:602782
Chronic Pneumonitis Of Infancy	Hypoxemia, Diffuse reticular or finely nodular infiltrations, Cyanosis, Ground-glass opacification	ORPHA:91359
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Arthrogryposis multiplex congenita, Ventricular septal defect, Right ventricular hy...	OMIM:613404
Medullary Thyroid Carcinoma	Weight loss, Abnormal liver parenchyma morphology	ORPHA:1332
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp...	ORPHA:567983
Prolactinoma	Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma...	ORPHA:2965
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Lymphopenia, Acute respiratory distress syndrome, Severe B lymphocytopenia, Por...	OMIM:620005
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Patent foramen ovale, Increased nuchal translucency, Proximal muscle weakness in lower limbs, Atr...	ORPHA:280633
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension...	ORPHA:1457
Secondary Intestinal Lymphangiectasia	Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Cirrhosis, Hypochole...	ORPHA:90363
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Polyhydramnios, Aortopulm...	OMIM:620025
Pulmonary Hypertension, Primary, 2	Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni...	OMIM:615342
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells, Facial erythema	OMIM:618307
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Lymphatic Malformation 13	Nonimmune hydrops fetalis, Fetal pericardial effusion, Single umbilical artery, Mitral regurgitat...	OMIM:620244
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Fg Syndrome Type 1	Progressive flexion contractures, Premature birth, Mitral valve prolapse, Pulmonary arterial hype...	ORPHA:93932
Hereditary Methemoglobinemia	Methemoglobinemia, Cyanosis, Small for gestational age	ORPHA:621
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Impotence, Oligomenorrhea	ORPHA:91354
Laryngeal Abductor Paralysis	Cyanosis, Dysphagia	OMIM:150260
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal d...	ORPHA:2519
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respirat...	ORPHA:79128
Congenital Tracheal Stenosis	Cyanosis, Abnormal stomach morphology, Abnormal lung morphology, Patent ductus arteriosus, Abnorm...	ORPHA:141127
Vascular Hyalinosis	Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption	OMIM:277175
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Ogden Syndrome	Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi...	OMIM:300855
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Increased circulating IgG level, Leukope...	ORPHA:99827
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Tarp Syndrome	Extramedullary hematopoiesis, Cyanosis, Cleft palate, Glossoptosis, Pulmonary hypoplasia, Abnorma...	ORPHA:2886
Non-Functioning Pituitary Adenoma	Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo...	ORPHA:91349
17Q23.1Q23.2 Microdeletion Syndrome	Atrial septal defect, Dyspnea, Congenital contracture, Pulmonary arterial hypertension	ORPHA:261279
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de...	OMIM:616449
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Cyanosis, Pneumothorax, Cleft palate, Hypoxemia, Abnormal pulmo...	ORPHA:2257
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Failure to thrive, Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased...	ORPHA:89842
Alg12-Cdg	Elevated hepatic transaminase, Hyponatremia, Cryptorchidism, Patent ductus arteriosus, Hypoalbumi...	ORPHA:79324
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T...	OMIM:242700
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia	OMIM:250800
Encephalopathy, Ethylmalonic	Death in infancy, Elevated circulating butyrylcarnitine concentration, Acrocyanosis, Failure to t...	OMIM:602473
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Congenital Short Bowel Syndrome	Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con...	OMIM:615237
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Rec...	ORPHA:1572
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Patent ductus arteriosus	OMIM:601612
Geleophysic Dysplasia 2	Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg...	OMIM:614185
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Crypt hyperplasia	OMIM:613217
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase...	ORPHA:99826
Hemochromatosis, Type 1	Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Amenorrhea	OMIM:235200
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl...	OMIM:619381
Multisystemic Smooth Muscle Dysfunction Syndrome	Tachypnea, Hypertension, Atrial septal defect, Pulmonary arterial hypertension, Pulmonary artery ...	OMIM:613834
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Impotence, Autonomic erectile dysfunction	OMIM:169500
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Recurrent respiratory infections, Aplasia of the thymus, Facial palsy, Polyhydram...	OMIM:620186
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Recurrent upper respiratory tract i...	OMIM:209920
Stuve-Wiedemann Syndrome 1	Apnea, Elbow flexion contracture, Pulmonary arterial medial hypertrophy, Respiratory insufficienc...	OMIM:601559
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro...	ORPHA:29073
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea	OMIM:613291
Muscular Dystrophy, Duchenne Type	Hypoventilation, Calf muscle pseudohypertrophy, Abnormal EKG, Respiratory insufficiency due to mu...	OMIM:310200
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Vitreous hemorrhage, Pulmonary embolism	OMIM:612304
Incontinentia Pigmenti	Telangiectasia of the skin, Camptodactyly of finger, Eosinophilia, Congestive heart failure, Reti...	ORPHA:464
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:612336
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode, Hyperglycinemia, Failure to thrive in infancy, Hyposerinemia	ORPHA:284417
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Erythema, Urticar...	ORPHA:343
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Johanson-Blizzard Syndrome	Colonic diverticula, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration,...	OMIM:243800
Manganese Poisoning	Impotence, Decreased female libido, Decreased male libido	ORPHA:306682
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi...	OMIM:618986
X-Linked Intellectual Disability, Nascimento Type	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Ventricular septal defec...	ORPHA:163956
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Congestive heart failure, Recurrent upp...	ORPHA:391487
Restrictive Dermopathy	Decreased fetal movement, Multiple joint contractures, Premature birth, Premature delivery becaus...	ORPHA:1662
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Congenital Heart Block	Patent ductus arteriosus, Pleural effusion, Cyanosis	ORPHA:60041
Fucosidosis	Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Acrocyanosis, Vascular skin abno...	ORPHA:349
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Patent ductus arteriosus, Hypoxemia, Pulmonary hypoplasia, Pulmonary sequ...	ORPHA:2847
Pure Autonomic Failure	Impotence	ORPHA:441
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Cyanosis, Bronchitis, Ground-glass opacification, Respiratory tract infection, Pleu...	ORPHA:60025
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent...	OMIM:601457
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hypoxemia...	ORPHA:456312
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Erythema, Multiple g...	OMIM:225750
Osteogenesis Imperfecta, Type Iii	Pulmonary arterial hypertension	OMIM:259420
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Brain abscess, Failure to thrive, Extrahepatic portal hypertension, Hep...	ORPHA:2929
Restrictive Dermopathy 2	Rectal prolapse, Cyanosis, Gastroesophageal reflux	OMIM:619793
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Dyspnea, Flexion contracture, Right bundle branch block, Hypertension, M...	OMIM:614008
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Megaloblastic anemia, Dilated cardiomyopathy, Subdural ...	ORPHA:79282
Melas	Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Ragged-red muscle fibers, Dilated...	ORPHA:550
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Perineural Cyst	Dyspareunia, Retrograde ejaculation, Male sexual dysfunction, Impotence, Infertility, Female sexu...	ORPHA:65250
Marshall-Smith Syndrome	Apnea, Ventricular septal defect, Dysplastic aortic valve, Recurrent upper respiratory tract infe...	OMIM:602535
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension	OMIM:620029
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Spina bifida, Recurrent pneumonia, Telangiectasia, Hypertension...	OMIM:234100
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Schwartz-Jampel Syndrome	Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, Prenatal movement ...	ORPHA:800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Jaundice, Abnormally low T cell...	ORPHA:276
Neu-Laxova Syndrome 1	Decreased fetal movement, Ventricular septal defect, Spina bifida, Polyhydramnios, Fetal akinesia...	OMIM:256520
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Kagami-Ogata Syndrome	Respiratory failure requiring assisted ventilation, Premature birth, Diastasis recti, Polyhydramn...	ORPHA:254519
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Facial hy...	ORPHA:308552
Esophageal Atresia	Recurrent respiratory infections, Barrett esophagus, Cyanosis, Intestinal malrotation, Bronchitis...	ORPHA:1199
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Pulmona...	ORPHA:538
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	T lymphocytopenia, Failure to thrive, B lymphocytopenia, Lymphopenia	ORPHA:277
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary arterial hypertension, Umbi...	OMIM:618454
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay	Impotence	ORPHA:98
Viss Syndrome	Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, Increased circulating IgG leve...	OMIM:619472
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Hyperkalemia	OMIM:240200
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz...	ORPHA:91348
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper...	OMIM:100300
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Vil...	OMIM:614162
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux	ORPHA:1949
Degcags Syndrome	Polyhydramnios, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmatic eventrati...	OMIM:619488
Obesity-Hypoventilation Syndrome	Cyanosis, Obesity	OMIM:257500
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
15Q Overgrowth Syndrome	Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Bre...	ORPHA:314585
Scedosporiosis	Pneumonia, Bronchitis, Pleural empyema, Pulmonary fibrosis, Apical pulmonary opacity, Pleuritis, ...	ORPHA:449280
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Eosinophilia, Abnor...	ORPHA:183
Buerger Disease	Acrocyanosis	ORPHA:36258
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Recurrent pneumonia, Atrial septal defect, Pulmonary arterial hyperten...	ORPHA:464738
Hyperekplexia 1	Umbilical hernia, Apnea, Aspiration	OMIM:149400
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscle weakness, ...	ORPHA:600
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Gastrointestinal dysmotility, Cyanosis, Dy...	ORPHA:391428
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Erythema, Hypoalbuminemia, Failure to thrive, Generalized abnormality of skin, Fragile skin, Anemia	ORPHA:79396
Acquired Methemoglobinemia	Hypoxemia, Cyanosis, Methemoglobinemia	ORPHA:464453
Combined Oxidative Phosphorylation Deficiency 40	Death in infancy, Elevated circulating creatine kinase concentration, Decreased liver function, N...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Death in infancy, Elevated circulating creatine kinase concentration, Decreased liver function, N...	OMIM:618839
Cirrhosis, Familial	Pulmonary arterial hypertension, Hypertension	OMIM:215600
Chylomicron Retention Disease	Elevated hepatic transaminase, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrh...	ORPHA:71
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Juvenile Polyposis Syndrome	Hypokalemia, Failure to thrive, Hypoalbuminemia, Anemia	OMIM:174900
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Respiratory insufficiency due t...	OMIM:606070
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Death in infancy, Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Hypocalcem...	OMIM:618183
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Mosaic Trisomy 16	Premature birth, Ventricular septal defect, Large placenta, Abnormal lung morphology, Abnormal he...	ORPHA:1708
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Premature birth, Interphalangeal joint contracture of finger, Polyhydramnios, Diast...	ORPHA:96334
Autosomal Dominant Spastic Paraplegia Type 12	Female sexual dysfunction, Male sexual dysfunction	ORPHA:100993
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypernatremia, Hypoalbuminemia	OMIM:615508
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Sideroblastic anemia, Villous atrophy, Pancytopenia, Hepatomegaly,...	OMIM:557000
Simpson-Golabi-Behmel Syndrome, Type 1	Atrial septal defect, Neonatal respiratory distress, Hepatomegaly, Facial hypotonia, Diastasis re...	OMIM:312870
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Neonatal death, Intrahepatic bi...	OMIM:619534
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r...	OMIM:616749
Kallmann Syndrome	Dyspareunia, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertility, Primary amenorrh...	ORPHA:478
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Death in infancy, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Severe ph...	OMIM:270400
Glycogen Storage Disease Ic	Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Recurrent upper respiratory tract infections...	OMIM:232240
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Neonatal respiratory distress, Tachycardia, Apnea, Ventricular septal defect, Breech presentation...	OMIM:614653
Symptomatic Form Of Hfe-Related Hemochromatosis	Hypogonadotropic hypogonadism, Infertility, Erectile dysfunction, Testicular atrophy, Amenorrhea	ORPHA:465508
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respiratory tract infection,...	ORPHA:365
Cog8-Cdg	Elevated hepatic transaminase, Spontaneous hematomas, Protein-losing enteropathy	ORPHA:95428
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Prematurely aged appearance, Lack of fac...	ORPHA:2959
3Q29 Microdeletion Syndrome	Pulmonary arterial hypertension, Subvalvular aortic stenosis	ORPHA:65286
Immunodeficiency 85 And Autoimmunity	Failure to thrive in infancy, T lymphocytopenia, Decreased proportion of CD4-positive helper T ce...	OMIM:619510
Relapsing Polychondritis	Atelectasis, Erythema, Hepatitis, Anteriorly placed anus, Purpura	ORPHA:728
Immunodeficiency 57 With Autoinflammation	Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer...	OMIM:618108
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen...	ORPHA:667
46,Xy Sex Reversal 6	Chordee	OMIM:613762
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Double Outlet Right Ventricle	Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Pulmonary artery atr...	ORPHA:3426
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal...	OMIM:612289
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Spontaneous pneumothorax	OMIM:618154
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas...	OMIM:175500
Congenital Aortic Valve Stenosis	Angina pectoris, Sudden cardiac death, Dysplastic aortic valve, Aortic valve calcification, Aorti...	ORPHA:3093
Juvenile Polyposis Of Infancy	Refractory anemia, Subcutaneous lipoma, Cachexia, Patent ductus arteriosus, Hypoalbuminemia, Anemia	ORPHA:79076
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Bidirectional shunt, Elevated pulmonary arter...	OMIM:619351
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi...	ORPHA:85451
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Thrombocytopenia, Spl...	ORPHA:567
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Leptospirosis	Hepatomegaly, Jaundice, Hepatitis, Hyperproteinemia, Elevated serum transaminases during infectio...	ORPHA:509
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Abnormality of the sp...	ORPHA:2072
Eosinophilic Fasciitis	Acrocyanosis, Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Inflammatory Skin And Bowel Disease, Neonatal, 1	Perianal erythema, Villous atrophy, Duodenitis, Perioral erythema	OMIM:614328
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, High palate	ORPHA:98913
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, C...	OMIM:304790
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia	ORPHA:1203
Adrenoleukodystrophy	Impotence, Hypogonadism	OMIM:300100
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia	OMIM:250790
Pierson Syndrome	Hypoproteinemia, Death in childhood	OMIM:609049
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Severe failure to thrive, Cryptorchidism, Patent ductus arteriosus, Cyanosis	ORPHA:3304
Galloway-Mowat Syndrome 3	Failure to thrive, Hypoalbuminemia	OMIM:617729
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Bare Lymphocyte Syndrome, Type I	Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis	OMIM:604571
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Repeated pneumothoraces, Atelectasis, High palate, Pulmonary hypoplasia, Bruising susceptibility	ORPHA:536467
Elliptocytosis 3	Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr...	OMIM:617948
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Diarrhea 9	Villous atrophy	OMIM:618168
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Congestive heart failure, Asthma, Abnormal heart morphology, Macroglos...	ORPHA:444077
Fragile X Tremor/Ataxia Syndrome	Impotence, Premature ovarian insufficiency	OMIM:300623
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix,...	OMIM:263200
Dextrocardia	Intestinal malrotation, Abnormality of the spleen, Abnormal lung lobation, Abnormality of abdomin...	ORPHA:1666
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, Hypovolemia, Hepatosplenomegaly, H...	ORPHA:275761
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Camptoda...	OMIM:143095
Netherton Syndrome	Recurrent respiratory infections, Villous atrophy, Angioedema, Hypereosinophilia, Urticaria, Recu...	OMIM:256500
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly	ORPHA:313855
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Failure to thrive, Cyanosis, Death in infancy, Splenomegaly, Hyperalaninemia, Hepat...	OMIM:252010
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Hypoalbuminemia	OMIM:235510
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Thrombocytopenia, Leukopenia, Elliptocytosis, Pulmonary arterial hype...	ORPHA:2785
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Atrophic gastritis, Villous atrophy, Pancytopenia, Autoimmune h...	OMIM:614700
Galloway-Mowat Syndrome 1	Small for gestational age, Hypoalbuminemia	OMIM:251300
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Pulmonary artery hypoplasia, Cyanosis, Cleft palate	ORPHA:2326
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Hypoxemia, Pulmonary arterial hypertension, Recurrent respiratory infections	ORPHA:2282
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Gangliocytoma	Impotence, Decreased female libido, Amenorrhea	ORPHA:251937
Sick Sinus Syndrome 2	Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Adrenomyeloneuropathy	Female sexual dysfunction, Male sexual dysfunction, Erectile dysfunction, Abnormal libido	ORPHA:139399
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia, Hepatitis, Dysphagia, Acrocyanosis	ORPHA:589
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Chronic hepatitis, Colitis, Cirrhosis	OMIM:614602
Ethylmalonic Encephalopathy	Failure to thrive, Acrocyanosis, Petechiae	ORPHA:51188
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent...	OMIM:300967
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, T ...	ORPHA:83471
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Abnormal mitochondrial shape	OMIM:610773
Adult Krabbe Disease	Erectile dysfunction	ORPHA:206448
Greenberg Dysplasia	Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, I...	OMIM:215140
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Angin...	ORPHA:740
Pgm3-Cdg	Hemolytic anemia, Lymphopenia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnorma...	ORPHA:443811
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Meckel Syndrome 14	Pneumothorax, Hepatic fibrosis, Pulmonary hypoplasia, Cyanosis	OMIM:619879
Adenohypophysitis	Impotence, Decreased female libido, Decreased male libido, Amenorrhea	ORPHA:95512
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Atrial septal defect, Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular...	ORPHA:466791
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ...	OMIM:115470
Hypercholanemia, Familial 1	Fat malabsorption, Steatorrhea	OMIM:607748
Ctcf-Related Neurodevelopmental Disorder	Mitral regurgitation, Joint contracture of the 5th finger, Atrial septal defect, Pulmonary arteri...	ORPHA:363611
Choanal Atresia	Recurrent respiratory infections, Cyanosis	ORPHA:137914
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Acrocyanosis	OMIM:614407
Chiari Malformation Type Ii	Cyanosis, Dysphagia	OMIM:207950
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Malabsorption, Thrombocytopenia, Atelectasis,...	ORPHA:534
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Congenital diaphragmatic hernia, Oligohydramnios, Umbilical her...	OMIM:219100
Tsh-Secreting Pituitary Adenoma	Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ...	ORPHA:91347
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Aspiration, Perimembranous ventricular sept...	OMIM:618651
Digeorge Syndrome	High, narrow palate, Thrombocytopenia, Splenomegaly, Atelectasis, Recurrent pneumonia, Cleft pala...	OMIM:188400
X-Linked Adrenoleukodystrophy	Impotence	ORPHA:43
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	ORPHA:35078
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Cough...	ORPHA:3260
Tetrasomy 9P	Myositis, Pericarditis, Dextrocardia, Raynaud phenomenon, Pulmonary arterial hypertension, Abnorm...	ORPHA:3310
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary infiltrates, P...	OMIM:233450
Chand Syndrome	Atelectasis, Bifid tongue, Cleft palate	ORPHA:1401
Matthew-Wood Syndrome	Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen ...	ORPHA:2470
Panhypophysitis	Impotence, Decreased female libido, Decreased male libido, Amenorrhea	ORPHA:95513
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
Spinocerebellar Ataxia Type 42	Impotence	ORPHA:458803
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Whipple Disease	Erectile dysfunction	ORPHA:3452
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Pulmonary embolism	ORPHA:745
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Gastroesophageal reflux, High palate, Dysphagia	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Gastroesophageal reflux, High palate, Dysphagia	ORPHA:98914
Beckwith-Wiedemann Syndrome	Hepatomegaly, Premature birth, Diastasis recti, Polyhydramnios, Congenital diaphragmatic hernia, ...	ORPHA:116
Melnick-Needles Syndrome	Pulmonary arterial hypertension, Recurrent respiratory infections, Tricuspid valve prolapse, Mitr...	OMIM:309350
Trichorhinophalangeal Syndrome, Type Ii	Recurrent respiratory infections, Scapular winging, Bicuspid aortic valve, Myocardial infarction,...	OMIM:150230
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Fat malabsorption, Neutrop...	ORPHA:811
Blau Syndrome	Pericarditis, Camptodactyly of finger, Facial palsy, Dyspnea, Splenomegaly, Large vessel vasculit...	ORPHA:90340
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Spinocerebellar Ataxia Type 8	Impotence	ORPHA:98760
Heterotaxy, Visceral, 1, X-Linked	Bilateral trilobed lung, Hepatomegaly, Cyanosis, Posteriorly placed anus, Asplenia, Patent ductus...	OMIM:306955
Generalized Arterial Calcification Of Infancy	Respiratory distress, Ventricular hypertrophy, Transient ischemic attack, Polyhydramnios, Cardiom...	ORPHA:51608
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Developmental And Epileptic Encephalopathy 38	Aspiration, Limb hypertonia	OMIM:617020
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Aspiration, Neonatal respiratory distress, Polyhydramnios, Limb hypertonia	OMIM:618922
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten...	OMIM:606721
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A...	OMIM:618733
Immunodeficiency 17	Death in infancy, Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T ly...	OMIM:615607
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Camptodactyly of finger, Asplenia, Breech presentation...	OMIM:249000
Congenital Disorder Of Glycosylation, Type Im	Aspiration, Dilated cardiomyopathy, Bradycardia	OMIM:610768
Amyloidosis, Hereditary, Transthyretin-Related	Impotence	OMIM:105210
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse	ORPHA:2396
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f...	ORPHA:3472
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia	ORPHA:217390
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Pulmonary embolism	ORPHA:743
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Palpable purpura, Cutis marmorata, E...	ORPHA:48435
Young-Onset Parkinson Disease	Female sexual dysfunction, Male sexual dysfunction	ORPHA:2828
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Stomatocytosis...	OMIM:185000
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal lung morphology, Renovascular hypertension...	ORPHA:97685
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Renal tubular epithelial necrosis, Pulmonary edema	ORPHA:31826
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Gastrointestinal atr...	ORPHA:436252
Partial Androgen Insensitivity Syndrome	Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction	ORPHA:90797
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in infancy, Cyanosis, Gastroesophageal reflux, Death in childhood, Recurrent lower respirat...	OMIM:618426
Abetalipoproteinemia	Fat malabsorption, Acanthocytosis	OMIM:200100
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Pulmonary embolism	ORPHA:624
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Lymphopenia, Pyloric stenosis, Neutropenia, Cutaneous photosensitivity	OMIM:616395
Serkal Syndrome	Malrotation of small bowel, Pulmonary hypoplasia	ORPHA:139466
Sandhoff Disease	Impotence	OMIM:268800
Immunodeficiency 68	T lymphocytopenia, Abnormal natural killer cell count, B lymphocytopenia, Abscess	OMIM:612260
Foix-Alajouanine Syndrome	Female sexual dysfunction, Male sexual dysfunction	ORPHA:79093
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Primar...	ORPHA:2232
Familial Dysautonomia	Abnormal peritoneum morphology, Recurrent respiratory infections, Abnormal pleura morphology, Gas...	ORPHA:1764
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	T lymphocytopenia, Failure to thrive, Reduced natural killer cell count	OMIM:242860
Histiocytoid Cardiomyopathy	Hepatomegaly, Failure to thrive, Cyanosis	ORPHA:137675
Diaphanospondylodysostosis	Abnormal liver lobulation	OMIM:608022
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy	ORPHA:488627
Adult-Onset Autosomal Dominant Leukodystrophy	Impotence, Erectile dysfunction	ORPHA:99027
Pituitary Apoplexy	Impotence, Hypergonadotropic hypogonadism, Oligomenorrhea	ORPHA:95613
Sheehan Syndrome	Dyspareunia, Decreased female libido, Impotence, Oligomenorrhea, Amenorrhea	ORPHA:91355
Ataxia-Telangiectasia	Conjunctival telangiectasia, Lymphopenia, Elevated circulating alpha-fetoprotein concentration, A...	OMIM:208900
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis	OMIM:611376
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Abnormal stomach morphology, Neoplasm of t...	ORPHA:512
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Protruding tongue	OMIM:619580
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Cyanosis	OMIM:617478
Opitz Gbbb Syndrome	Umbilical hernia, Ventricular septal defect, Aspiration	OMIM:300000
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Dysphagia	ORPHA:163961
Lambert-Eaton Myasthenic Syndrome	Impotence	ORPHA:43393
Tay-Sachs Disease	Aspiration	OMIM:272800
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Limb joint cont...	OMIM:275210
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Tarp Syndrome	Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neonatal death, Meckel ...	OMIM:311900
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Abnormal T-wave, C...	ORPHA:2131
Oculoskeletodental Syndrome	Splenomegaly, Macroglossia, Protein-losing enteropathy, Hepatomegaly	OMIM:618440
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Flexion contracture	ORPHA:2148
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,...	ORPHA:508533
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Cutis marmorata, Acrocyanosis, Failure to thrive	ORPHA:416
Pontine Tegmental Cap Dysplasia	Aspiration, Facial palsy	OMIM:614688
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Thrombocytopenia, Leukocytosis, Rhabdomyolysis, Hypertension, Br...	ORPHA:94093
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Dyspnea, Congestive heart failure, Bronchiectasi...	OMIM:123700
Maternal Uniparental Disomy Of Chromosome 2	Bilateral cryptorchidism, Premature ovarian insufficiency, Chordee	ORPHA:96179
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, B lymphocytopenia, Neutropeni...	OMIM:300755
Mosaic Trisomy 9	Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobulation	ORPHA:99776
Multiple System Atrophy 1, Susceptibility To	Impotence	OMIM:146500
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Patent du...	ORPHA:84064
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Cog1-Cdg	Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly	ORPHA:263508
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Vici Syndrome	Lymphopenia, Elevated circulating creatine kinase concentration, Leukopenia, T lymphocytopenia, N...	OMIM:242840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce...	OMIM:600802
Sarcoidosis	Hepatomegaly, Hemolytic anemia, Hypercalcemia, Portal hypertension, Eosinophilia, Thrombocytopeni...	ORPHA:797
Double Outlet Left Ventricle	Patent ductus arteriosus, Pulmonary artery stenosis, Cyanosis	ORPHA:3427
Pudendal Neuralgia	Dyspareunia, Impotence	ORPHA:60039
Igg4-Related Retroperitoneal Fibrosis	Hydrocele testis, Retrograde ejaculation, Impotence	ORPHA:49041
Developmental And Epileptic Encephalopathy 100	Decreased fetal movement, Recurrent respiratory infections, Bilateral camptodactyly, Elbow flexio...	OMIM:619777
Pmm2-Cdg	Elevated hepatic transaminase, Abnormal subcutaneous fat tissue distribution, Reduced thyroxin-bi...	ORPHA:79318
Gm2-Gangliosidosis, Ab Variant	Aspiration	OMIM:272750
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Meconium ileus	OMIM:617239
48,Xxxy Syndrome	Recurrent respiratory infections, Asthma, Pulmonary embolism	ORPHA:96263
Musculocontractural Ehlers-Danlos Syndrome	Abnormal mesentery morphology, Pneumothorax, Malrotation of small bowel, Cleft palate, High palat...	ORPHA:2953
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Pleural effusion, Cyanosis, Pulmonary edema	OMIM:261740
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis, Gastroesophageal reflux	OMIM:223900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Cyanosis, Celiac disease, Gastrointestinal dysmotility, Recurrent ...	ORPHA:293987
49,Xxxxy Syndrome	Recurrent respiratory infections, Asthma, Pulmonary embolism	ORPHA:96264
Fryns Syndrome	Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cle...	OMIM:229850
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Myocardial infarction,...	ORPHA:117
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Hypoalbuminemia, Fragile skin	OMIM:614748
Fragile X-Associated Tremor/Ataxia Syndrome	Impotence	ORPHA:93256
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Infertility, Abnorm...	ORPHA:330015
Criss-Cross Heart	Cyanosis	ORPHA:1461
Adnp Syndrome	Respiratory distress, Umbilical hernia, Recurrent upper respiratory tract infections, Aspiration	ORPHA:404448
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve	OMIM:613355
Bilateral Perisylvian Polymicrogyria	Apnea, Flexion contracture, Aspiration, Abnormality of masticatory muscle, Facial diplegia, Dista...	ORPHA:98889
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Malabsorption	OMIM:600955
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Microvillus Inclusion Disease	Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Aspiration, Decreased muscle mass, Abnormal heart morphology	ORPHA:96182
Unilateral Polymicrogyria	Pseudobulbar paralysis, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Yunis-Varon Syndrome	Premature birth, Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardio...	OMIM:216340
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Cyanosis, Pulmonary arteriovenous malformation, Lip telangiectasia, ...	OMIM:610655
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune hemolytic ...	OMIM:102700
Rett Syndrome, Congenital Variant	Aspiration	OMIM:613454
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Fetal ascites, Flexion contracture, Knee flexion contracture, Aspiration, Diaphragmatic ev...	OMIM:619503
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, T lymphocytopenia, Neutropenia, Lymphopenia, Purpura	OMIM:607944
Martin-Probst Syndrome	Cryptorchidism, Chordee	OMIM:300519
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Cutis marmorata, Neonatal alloimmune thrombocytopenia, Hepatosplen...	ORPHA:51
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Premature graying of hair, Abnormal intrahepatic bile duct morphology, Premature skin ...	ORPHA:363618
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Intestinal malrotation, Hiatus hernia, Pneumothorax, Cleft palate, High palate, Abnormal duodenum...	OMIM:601776
Pitt-Hopkins Syndrome	Aganglionic megacolon, Hiatus hernia, Gastroesophageal reflux, Esophagitis, Acrocyanosis	ORPHA:2896
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor...	ORPHA:447
Meningioma	Impotence, Hypogonadotropic hypogonadism, Amenorrhea	ORPHA:2495
46,Xy Ovotesticular Difference Of Sex Development	Chordee	ORPHA:325345
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens...	ORPHA:394
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Pneumothorax, Recurrent pneumonia, Small bowel diverticula, Emphysema, Peripher...	ORPHA:90349
Trisomy 8P	Recurrent upper respiratory tract infections, Malrotation of small bowel, Abnormal lung lobation,...	ORPHA:264450
Hand-Foot-Genital Syndrome	Chordee	OMIM:140000
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Cryptorchidism, Chordee	OMIM:616728
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Fat malabsorption, Acanthocytosis	ORPHA:96180
Steinert Myotonic Dystrophy	Hypergonadotropic hypogonadism, Decreased fertility, Impotence, Male hypogonadism, Testicular atr...	ORPHA:273
Somatomammotropinoma	Impotence, Hypogonadotropic hypogonadism, Dysmenorrhea, Amenorrhea	ORPHA:314769
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Aplasia/Hypoplasia of the uvul...	ORPHA:84
Alström Syndrome	Respiratory distress, Hepatomegaly, Portal hypertension, Chronic bronchitis, Congestive heart fai...	ORPHA:64
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Polyhydramnios, Cardiac condu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Bicuspid aortic valve, Pneumonia, Polyhydramnios, Cardiac condu...	ORPHA:353277
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Patent ductus a...	OMIM:274000
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Desquamation of skin soon afte...	ORPHA:39041
Acromegaly	Impotence, Hypogonadotropic hypogonadism, Dysmenorrhea	ORPHA:963
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Patent ductus arteriosus, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Chordee	OMIM:618891
Multiple Endocrine Neoplasia Type 1	Impotence, Decreased male libido, Amenorrhea	ORPHA:652
Sturge-Weber Syndrome	Conjunctival telangiectasia, Pulmonary embolism	ORPHA:3205
Autosomal Dominant Cutis Laxa	Prematurely aged appearance, Bronchiectasis, Premature skin wrinkling, Small bowel diverticula, B...	ORPHA:90348
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Acrocyanosis, Cutis marmorata	OMIM:259900
45,X/46,Xy Mixed Gonadal Dysgenesis	Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi...	ORPHA:1772
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Epistaxis, Chronic neutropenia, Enlarged kidney, Hypertension, Pulmonary venous hyp...	ORPHA:79259
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, T...	OMIM:251260
Progeroid Short Stature With Pigmented Nevi	Premature ovarian insufficiency, Chordee	OMIM:176690
Fraser Syndrome 1	Abnormal small intestine morphology, Pulmonary hypoplasia, Cleft palate, Abnormality of the anus	OMIM:219000
Down Syndrome	Aganglionic megacolon, Protruding tongue, Pulmonary artery stenosis, Partial anomalous pulmonary ...	OMIM:190685
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Hiatus hernia, Rectal prolapse, Gastroesophageal...	ORPHA:287
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Familial Chylomicronemia Syndrome	Perianal abscess, Hepatosplenomegaly, Pulmonary embolism	ORPHA:444490
Lenz-Majewski Hyperostotic Dwarfism	Cryptorchidism, Chordee	OMIM:151050
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Chordee	ORPHA:477993
Osteoglophonic Dysplasia	Cryptorchidism, Chordee	OMIM:166250
Linear Skin Defects With Multiple Congenital Anomalies 1	Chordee	OMIM:309801
Norrie Disease	Cryptorchidism, Erectile dysfunction	ORPHA:649
Proteus Syndrome	Decreased muscle mass, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Enlarged pol...	ORPHA:744
Genitourinary And/Or Brain Malformation Syndrome	Cryptorchidism, Streak ovary, Chordee	OMIM:618820
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Patent ductus arteriosus, Cyanosis	ORPHA:216694
African Trypanosomiasis	Impotence, Infertility, Abnormality of the menstrual cycle	ORPHA:3385
Duplication Of Urethra	Chordee	ORPHA:237
Coffin-Lowry Syndrome	Cutis marmorata, Rectal prolapse, Narrow palate, High palate, Acrocyanosis	OMIM:303600
Exstrophy-Epispadias Complex	Cryptorchidism, Female sexual dysfunction, Male sexual dysfunction	ORPHA:322
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cryptorchidism, Chordee	ORPHA:268261
Hypermobile Ehlers-Danlos Syndrome	Malabsorption, Gastrointestinal dysmotility, Anorectal anomaly, Gastroesophageal reflux, Acrocyan...	ORPHA:285
Chilton-Okur-Chung Neurodevelopmental Syndrome	Cryptorchidism, Chordee	OMIM:619841
Wolf-Hirschhorn Syndrome	Accessory spleen, Malrotation of small bowel, Biliary tract abnormality, Cleft palate, Gastroesop...	OMIM:194190
Genitopatellar Syndrome	Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, Pulmonary hypoplasia, Dysphagi...	OMIM:606170
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hydrocele testis, Cryptorchidism, Chordee	OMIM:619522
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Cryptorchidism, Chordee, Primary amenorrhea	OMIM:201750
Mowat-Wilson Syndrome	Hydrocele testis, Cryptorchidism, Chordee, Oligomenorrhea	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hydrocele testis, Cryptorchidism, Chordee	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hydrocele testis, Cryptorchidism, Chordee	ORPHA:261552

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 Ada

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 Ada.

There are 35 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
ADAD2 interacts with RNF17 in P-bodies to repress the Ping-pong cycle in pachytene piRNA biogenesis.	The Journal of cell biology (March 2023)	Adad2^em2Shnk Adad2^em1Shnk	36930220
ADAR1 averts fatal type I interferon induction by ZBP1.	Nature (July 2022)	Adar^{tm1b(EUCOMM)Wtsi} Adar^{tm1a(EUCOMM)Wtsi}	PMC9329096
ADAMTS7 Attenuates House Dust Mite-Induced Airway Inflammation and Th2 Immune Responses.	Lung (May 2022)	Adamts7^{tm1a(KOMP)Wtsi}	PMC9205806
ADAP1 promotes latent HIV-1 reactivation by selectively tuning KRAS-ERK-AP-1 T cell signaling-transcriptional axis.	Nature communications (March 2022)	Adap1^{tm1a(EUCOMM)Wtsi}	35232997
Coronary Disease Association With ADAMTS7 Is Due to Protease Activity.	Circulation research (June 2021)	Adamts7^{tm1b(KOMP)Wtsi}	34176299
Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.	PLoS genetics (March 2021)	Adamts19^{tm4a(EUCOMM)Wtsi}	PMC8018652
Normal fertility in male mice lacking ADAM32 with testis-specific expression.	Reproductive biology (September 2020)	Adam32^{tm1b(KOMP)Wtsi}	32972883
The Secreted Glycoprotein Reelin Suppresses the Proliferation and Regulates the Distribution of Oligodendrocyte Progenitor Cells in the Embryonic Neocortex.	The Journal of neuroscience : the official journal of the Society for Neuroscience (September 2020)	Adamts3^{tm1a(KOMP)Wtsi}	32913108
ADAD1 and ADAD2, testis-specific adenosine deaminase domain-containing proteins, are required for male fertility.	Scientific reports (July 2020)	Adad2^em3(IMPC)J Adad1^em2(IMPC)J	PMC7360552
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Adal^{tm1a(EUCOMM)Wtsi} Adamts19^{tm4a(EUCOMM)Wtsi} Adamts3^{tm1b(KOMP)Wtsi} Adap1^{tm1a(EUCOMM)Wtsi}	PMC7263671
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.	Nature genetics (December 2019)	Adamts19^{tm4a(EUCOMM)Wtsi} Adamts19^{tm4b(EUCOMM)Wtsi}	PMC7197892
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Adal^{tm1a(EUCOMM)Wtsi} Adamts19^{tm4a(EUCOMM)Wtsi} Adamts3^{tm1b(KOMP)Wtsi} Adap1^{tm1a(EUCOMM)Wtsi}	PMC7338221
ADAP1 promotes invasive squamous cell carcinoma progression and predicts patient survival.	Life science alliance (December 2019)	Adap1^{tm1a(EUCOMM)Wtsi}	PMC6892435
Genetic manipulation of ureteric bud tip progenitors in the mammalian kidney through an Adamts18 enhancer driven tet-on inducible system.	Developmental biology (November 2019)	Adamts18^{tm1(KOMP)Vlcg}	31734175
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Adal^{tm1a(EUCOMM)Wtsi} Adam17^{tm1a(EUCOMM)Wtsi} Adam3^{tm1(KOMP)Wtsi} Adamts19^{tm4a(EUCOMM)Wtsi} Adamts3^{tm1b(KOMP)Wtsi} Adap1^{tm1a(EUCOMM)Wtsi} Adar^{tm1a(EUCOMM)Wtsi}	PMC6671969
Morphogenesis of the kidney and lung requires branch-tip directed activity of the Adamts18 metalloprotease.	Developmental biology (June 2019)	Adamts18^{tm1.1(KOMP)Vlcg}	31242448
Disruption of the Extracellular Matrix Progressively Impairs Central Nervous System Vascular Maturation Downstream of β-Catenin Signaling.	Arteriosclerosis, thrombosis, and vascular biology (May 2019)	Adamtsl2^{tm1b(KOMP)Wtsi}	PMC6597191
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Adal^{tm1a(EUCOMM)Wtsi} Adam3^{tm1(KOMP)Wtsi} Adam17^{tm1a(EUCOMM)Wtsi} Adamts3^{tm1b(KOMP)Wtsi} Adamts19^{tm4a(EUCOMM)Wtsi} Adap1^{tm1a(EUCOMM)Wtsi} Adar^{tm1a(EUCOMM)Wtsi}	PMC6459510
Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.	Matrix biology : journal of the International Society for Matrix Biology (February 2019)	Adamtsl2^{tm1c(KOMP)Wtsi}	30738849
Co-expression of sperm membrane proteins CMTM2A and CMTM2B is essential for ADAM3 localization and male fertility in mice.	Journal of cell science (October 2018)	Adam3^tm1(KOMP)Osb	30209135
Interactions between lysyl oxidases and ADAMTS proteins suggest a novel crosstalk between two extracellular matrix families.	Matrix biology : journal of the International Society for Matrix Biology (May 2018)	Adamtsl2^{tm1b(KOMP)Wtsi}	29758265
Adar3 Is Involved in Learning and Memory in Mice.	Frontiers in neuroscience (April 2018)	Adarb2^{tm1a(KOMP)Mbp}	PMC5914295
The metalloproteinase-proteoglycans ADAMTS7 and ADAMTS12 provide an innate, tendon-specific protective mechanism against heterotopic ossification.	JCI insight (April 2018)	Adamts7^{tm1b(KOMP)Wtsi}	PMC5928868
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Adal^{tm1a(EUCOMM)Wtsi} Adamts19^{tm4a(EUCOMM)Wtsi} Adamts3^{tm1b(KOMP)Wtsi} Adap1^{tm1a(EUCOMM)Wtsi}	PMC5827107
Systematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.	PloS one (July 2017)	Adad1^em1J Adad2^em1J	PMC5503261
Secreted Metalloproteinase ADAMTS-3 Inactivates Reelin.	The Journal of neuroscience : the official journal of the Society for Neuroscience (February 2017)	Adamts3^{tm1a(KOMP)Wtsi}	28213441
Testicular adenosine to inosine RNA editing in the mouse is mediated by ADARB1.	Biology of reproduction (January 2017)	Adar^{tm1c(EUCOMM)Wtsi} Adar^{tm1a(EUCOMM)Wtsi}	28395340
Proteolytic activation defines distinct lymphangiogenic mechanisms for VEGFC and VEGFD.	The Journal of clinical investigation (May 2016)	Adamts3^{tm1a(KOMP)Wtsi}	PMC4887177
Transcriptome Analysis of Targeted Mouse Mutations Reveals the Topography of Local Changes in Gene Expression.	PLoS genetics (February 2016)	Adam26a^{tm1(KOMP)Vlcg}	PMC4739719
Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice.	Wellcome open research (January 2016)	Adamts3^{tm1b(KOMP)Wtsi}	PMC5159622
A disintegrin and metalloprotease with thrombospondin type I motif 7: a new protease for connective tissue growth factor in hepatic progenitor/oval cell niche.	The American journal of pathology (April 2015)	Adamts7^{tm1a(KOMP)Wtsi}	PMC4450322
Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics.	Matrix biology : journal of the International Society for Matrix Biology (March 2015)	Adamts7^{tm1a(KOMP)Wtsi} Adamts18^{tm1.1(KOMP)Vlcg}	25770910
Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia--a novel mouse model providing insights into geleophysic dysplasia.	Disease models & mechanisms (March 2015)	Adamtsl2^{tm1a(KOMP)Wtsi} Adamtsl2^{tm1b(KOMP)Wtsi}	PMC4415891
Knockout of Adamts7, a novel coronary artery disease locus in humans, reduces atherosclerosis in mice.	Circulation (February 2015)	Adamts7^{tm1a(KOMP)Wtsi}	PMC4382454
ADAMTS-7 inhibits re-endothelialization of injured arteries and promotes vascular remodeling through cleavage of thrombospondin-1.	Circulation (February 2015)	Adamts7^{tm1a(KOMP)Wtsi}	25712208

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Ada^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Ada^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Ada^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ada^{tm35561(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ada^{tm35561(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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