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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, T lymphocytopenia, Failure to thrive, B lymphocytopenia ORPHA:277
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Failure to thrive, Lymphopenia, Splenomegaly, Autoimmune hemolytic anem... OMIM:102700
Omenn Syndrome
Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophil... ORPHA:39041

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... OMIM:619868
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Splenomegaly, Death in childhood, Intermittent jaundice, Elevated circu... OMIM:601847
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypermethioninemia, Hypoalbuminemia, Failure to thrive, Elevated circulating aspartate aminotrans... OMIM:613752
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... OMIM:613812
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fail... OMIM:620357
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... OMIM:147480
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Cholestasis, Progressive Familial Intrahepatic, 4
Intrahepatic cholestasis, Hepatic failure, Portal hypertension, Cirrhosis, Hepatocellular carcinoma OMIM:615878
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice OMIM:613977
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intrahepa... OMIM:214950
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice OMIM:614972
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... OMIM:211600
Pediatric Hepatocellular Carcinoma
Hepatic fibrosis, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Elevated circulating al... ORPHA:33402
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hemo... OMIM:603553
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo... ORPHA:398063
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Microcytic anemia, Hepatic steatosis, Pancreatitis... OMIM:618805
Mednik Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:171851
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Omenn Syndrome
Severe B lymphocytopenia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia... OMIM:603554
Dengue Fever
Bruising susceptibility, Leukopenia, Petechiae, Thrombocytopenia, Hepatomegaly, Hypoproteinemia ORPHA:99828
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati... ORPHA:480520
Alpha-1-Antitrypsin Deficiency
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chronic bronchitis, Gastri... OMIM:613490
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... OMIM:615285
Irida Syndrome
Abnormal intestine morphology, Intrahepatic cholestasis ORPHA:209981
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... OMIM:613255
Immunodeficiency 32B
Hypoalbuminemia, Failure to thrive, Impaired oxidative burst, Splenomegaly, Anemia, Eosinophilia,... OMIM:226990
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... OMIM:308240
Leishmaniasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... ORPHA:507
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Generalized abnormality of skin, Hypereosinophilia, Pleural effusion, Parenchymal co... ORPHA:2902
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia, Stillbirth OMIM:152800
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Alg6-Cdg
Hypoalbuminemia, Failure to thrive, Abnormality of the liver, Decreased LDL cholesterol concentra... ORPHA:79320
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Reduced ... OMIM:614887
Kennedy Disease
Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proporti... ORPHA:90362
Placental Insufficiency
Abnormal umbilical cord blood vessel morphology, Small placenta, Abnormal heart morphology, Abnor... ORPHA:439167
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... OMIM:251880
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... ORPHA:2357
Mpi-Cdg
Hypoalbuminemia, Hepatic fibrosis, Failure to thrive, Decreased liver function, Portal hypertensi... ORPHA:79319
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive, Death in infancy OMIM:227090
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... ORPHA:846
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Anemia, Iron deficiency anemia, Thrombocytosis, Hepatomegaly, Hypoproteinemia OMIM:226300
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Failure to thrive, Decreased liver function, Cholestasis, Elevated circulating c... OMIM:608104
Enterokinase Deficiency
Hypoproteinemia, Failure to thrive OMIM:226200
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cho... OMIM:615895
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive, Death in infancy, Urticaria ORPHA:1954
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... OMIM:209950
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Failure to thrive, Death in childhood, Cirrho... OMIM:602579
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, No... ORPHA:324604
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Failure to thrive secondary to recurrent infections OMIM:608971
C1Q Deficiency 2
Atelectasis, Facial erythema, Vasculitis in the skin, Anemia, Recurrent lower respiratory tract i... OMIM:620321
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Groun... ORPHA:2032
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... OMIM:613070
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... ORPHA:367
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Hepa... OMIM:201475
Macrophage Activation Syndrome
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... ORPHA:158061
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Increased circulating antibody level, Pulm... OMIM:178500
Carcinoid Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Facial telangiec... ORPHA:100093
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Decreased l... OMIM:617093
Wolcott-Rallison Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... ORPHA:1667
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Bronchitis, Hepatitis, Emphysema, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice... ORPHA:60
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Hypoxemia ORPHA:70587
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... OMIM:617514
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa... OMIM:619013
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:71212
Farber Disease
Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Elevated circula... ORPHA:333
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Beta-Thalassemia Intermedia
Cholelithiasis, Decreased liver function, Extramedullary hematopoiesis, Persistence of hemoglobin... ORPHA:231222
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:242150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Pleural effusion, Splenomegaly, Pulmonary arte... ORPHA:2414
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Hypercholesterolemia, Miscarriage, Hypoproteinemia, Sma... ORPHA:86816
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619685
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia OMIM:608093
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
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
Johanson-Blizzard Syndrome
Failure to thrive, Exocrine pancreatic insufficiency, Death in infancy, Anemia, Hypoproteinemia, ... ORPHA:2315
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Meconium Aspiration Syndrome
Premature rupture of membranes, Meconium stained amniotic fluid, Atelectasis, Aspiration pneumoni... ORPHA:70588
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Avian Influenza
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Lymphopenia,... ORPHA:454836
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Oxygen desaturation on... OMIM:610978
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL cholesterol concentration, Hep... ORPHA:247598
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Petechiae, Anemia, ... OMIM:612840
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Elevated circulating hepatic transaminase concentration, Fai... ORPHA:88618
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Telangiectasia of the skin, Pulmonary arte... ORPHA:220402
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Pneumothorax, Facial ... OMIM:612387
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatic failure, Pancreatic lymphangiectasis, Splenomegaly, Hypocalcemia, Death in infancy, Hepat... OMIM:235255
Congenital Disorder Of Glycosylation, Type It
Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, H... OMIM:614921
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Oral leukoplakia, Increased mean corpuscular volume, Premature graying of hair, ... OMIM:127550
Citrullinemia, Type Ii, Neonatal-Onset
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Elevated cir... OMIM:605814
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Increased circulating lactate dehydrogenase concentration, Atelectasis, Pulmonary ... ORPHA:254361
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Obesity ORPHA:88643
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Leigh Syndrome, Nuclear
Failure to thrive, Hepatocellular necrosis OMIM:256000
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic necrosis, Hepatic steatosis OMIM:231530
Grfoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Cholelithiasis, Subcutaneous lipoma, Neopl... ORPHA:97261
Lathosterolosis
Hepatic fibrosis, Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated ci... OMIM:607330
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly OMIM:312500
Allergic Bronchopulmonary Aspergillosis
Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Somatostatinoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Subcutaneous lipoma, Neoplasm of the pancr... ORPHA:97283
Perching Syndrome
High palate, Dysphagia, Cyanosis OMIM:617055
Sickle Cell Disease
Priapism OMIM:603903
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertens... OMIM:616028
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Immunodeficiency 105
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Death in childh... OMIM:619924
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Cutaneous photosensiti... ORPHA:167
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis OMIM:267450
Pancreatic insufficiency, combined exocrine
Exocrine pancreatic insufficiency, Hypoproteinemia OMIM:260450
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... ORPHA:158048
Congenital Enterovirus Infection
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Hyperammonemi... ORPHA:292
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Glucagonoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Abnormal gastrointestinal motility, Subcut... ORPHA:97280
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Decreased liver function, Extramedullary hema... OMIM:617021
Stuve-Wiedemann Syndrome 2
Camptodactyly, Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure OMIM:619751
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Ppoma
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Cholelithiasis, Subcutaneous lipoma, Neopl... ORPHA:97278
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass op... OMIM:620233
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Splenomegaly, Hepatomegaly OMIM:608776
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatic failure, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hep... ORPHA:1655
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Abnormal small intestine morphology, Splenomegaly ORPHA:100025
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... ORPHA:822
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Umbilical hernia, Congestive ... ORPHA:423461
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,... OMIM:231680
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Death in... OMIM:618278
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Hypove... ORPHA:98915
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... OMIM:603471
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Weight lo... ORPHA:67
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Thrombocytopenia, Cardiac... OMIM:212350
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Alg1-Cdg
Hypoalbuminemia, Decreased liver function ORPHA:79327
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Pulmonary infiltrates, Eosinophilia, Thrombocytopenia, Anemia OMIM:131400
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Vipoma
Intrahepatic cholestasis, Erythema, Abnormal gastrointestinal motility, Subcutaneous lipoma, Neop... ORPHA:97282
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L... ORPHA:247353
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Cyanotic episode, Hyposerinemia, Death in infancy OMIM:610992
Waardenburg Syndrome Type 3
Acrocyanosis, Atelectasis ORPHA:896
Dominant Beta-Thalassemia
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231226
Fanconi-Bickel Syndrome
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating aspartat... OMIM:227810
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Abnormal lung mor... ORPHA:60032
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Desquamative interstitial pneumonitis, Ty... OMIM:263000
Fumarase Deficiency
Intrahepatic cholestasis, Hepatic failure, Polycythemia, Reduced subcutaneous adipose tissue, Dec... OMIM:606812
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Cyanosis, Low plasma citrulli... OMIM:261680
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... ORPHA:3287
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Recurrent respiratory... OMIM:610910
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Lathosterolosis
Intrahepatic cholestasis, Hepatic failure, Abnormal platelet morphology, Thrombocytopenia, Anisop... ORPHA:46059
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Parenchymal consolidation, Leukocytosis, Cyanosis, Pneumothorax, Neut... ORPHA:1302
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Impotence OMIM:608088
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, High palate, Atelectasis, Neonatal death OMIM:300219
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Intestinal malrotation, Pulmonary situs ambiguus, Respiratory tract inf... ORPHA:244
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Heparin-Induced Thrombocytopenia
Autoimmune thrombocytopenia, Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Hurler-Scheie Syndrome
Aortic regurgitation, Umbilical hernia, Thenar muscle atrophy, Camptodactyly of finger, Contractu... OMIM:607015
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Congenital Tricuspid Valve Dysplasia
Premature birth, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent for... ORPHA:555874
Beta-Thalassemia Major
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... ORPHA:231214
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Primary Biliary Cholangitis
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Dermatographic urticaria, ... ORPHA:186
Immunodeficiency 76
Lymphopenia, Splenomegaly, Death in childhood, B lymphocytopenia, T lymphocytopenia OMIM:619164
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... ORPHA:26791
Liver Disease, Severe Congenital
Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato... OMIM:619991
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Hypoplasia of the diaphragm, Ventricular septal defect, Atrial... ORPHA:185
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:619487
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Anemia, Hyperlipidemia OMIM:603278
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Brain abscess, Transient ischemic attack, Pulmonary hemorrhage... ORPHA:2038
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
High Altitude Pulmonary Edema
Leukocytosis, Cyanosis, Pulmonary edema, Hypoxemia, Pulmonary opacity ORPHA:330012
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Hypermethioninemia, Increased circulating iro... OMIM:222470
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Mitral regurgitation, Splenomegaly... OMIM:230800
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Hemochromatosis, Type 3
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:604250
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Leukocytosis, Splenomegaly, Death in infancy, Death in c... OMIM:618042
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Sickle Cell Anemia
Priapism ORPHA:232
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... OMIM:212065
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... OMIM:618329
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Xfe Progeroid Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Deat... OMIM:610965
Eosinophilic Gastroenteritis
Hypoalbuminemia, Leukocytosis, Anemia, Weight loss, Eosinophilia, Elevated circulating C-reactive... ORPHA:2070
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529799
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice, Hemolytic anemia, Hype... ORPHA:529808
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Micronodular cirrhosis, Failure to thrive, Hepatocellular necrosis, Cholestasis,... OMIM:256810
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Aplas... OMIM:614742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Premature graying of hair, Emphysema, Lymphopenia, Portal hypertension, Thrombocytopenia, Anemia,... OMIM:620365
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Leukopenia, Splenomegaly, Death in childhood, Anemia, Neutropenia, Thrombocytope... OMIM:617303
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Centrilobular ground-glass opacification on pulmonary HRCT, Interlob... ORPHA:199241
Kagami-Ogata Syndrome
Premature birth, Diastasis recti, Splenomegaly, Polyhydramnios, Ventricular septal defect, Pulmon... OMIM:608149
Al Amyloidosis
Hypoalbuminemia, Howell-Jolly bodies, Bruising susceptibility, Abnormality of the liver, Anemia, ... ORPHA:85443
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Death in c... OMIM:243150
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Tachycardia, Right ventricula... ORPHA:335
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Atelectasis, Impaired oxidative burst, Pleural effusion, Splenomegaly, Decre... OMIM:306400
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... OMIM:619445
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Elevated circulating aspartate aminotransferase concen... OMIM:616433
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatitis, Hypomagnesem... ORPHA:37042
Thanatophoric Dysplasia, Glasgow Variant
Anemia, Hepatosplenomegaly, Neonatal death OMIM:273680
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Hjv Or Hamp-Related Hemochromatosis
Hypogonadism, Impotence ORPHA:79230
Foxp1 Syndrome
Abnormal heart morphology, Recurrent upper respiratory tract infections, Pulmonary arterial hyper... ORPHA:391372
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy, Recurrent pneumonia, Neutropenia, Abnormal T cell morphology OMIM:613502
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Abnormal heart morp... ORPHA:206572
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Polyhydramnios, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance,... OMIM:612949
Attrv30M Amyloidosis
Impotence ORPHA:85447
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death OMIM:615918
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Failure to thrive, Death in childhood, Death in infancy, Elevated circulating cr... OMIM:619055
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small placenta ORPHA:73272
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Cardiomyopathy, Atelectasis, Absent muscle fiber merosin, Reduc... ORPHA:258
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice, Reduced... OMIM:224100
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Neutropenia, Hepatomegaly, Recur... OMIM:612541
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Common Variable Immunodeficiency
Pneumonia, Elevated circulating hepatic transaminase concentration, Recurrent respiratory infecti... ORPHA:1572
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Pulmonary arterial hypertension, Telangiectasia of the skin, Myoc... ORPHA:81
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Pituicytoma
Hypogonadotropic hypogonadism, Impotence, Decreased female libido, Amenorrhea ORPHA:251623
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Zygomycosis
Ileitis, Pulmonary infiltrates, Acute infectious pneumonia, Neutropenia, Air crescent sign, Gastr... ORPHA:73263
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
Moyamoya Disease 6 With Or Without Achalasia
Impotence OMIM:615750
Acute Transverse Myelitis
Priapism, Abnormal libido ORPHA:139417
Silver-Russell Syndrome Due To A Point Mutation
Small placenta, Oligohydramnios ORPHA:397590
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumo... OMIM:613177
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmon... OMIM:178550
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Abetalipoproteinemia
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypot... ORPHA:14
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Death in infancy OMIM:251850
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Sepsis In Premature Infants
Decreased liver function, Leukocytosis, Splenomegaly, Petechiae, Decreased body weight, Cyanosis,... ORPHA:90051
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... ORPHA:159
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the liver, Decreased proportion of CD4-positive helper ... ORPHA:543
Braddock Syndrome
Pulmonary arterial hypertension, Congenital muscular torticollis, Pulmonary fibrosis ORPHA:52047
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp... ORPHA:567548
Mednik Syndrome
Hepatic fibrosis, Microcolon, Erythema, Volvulus, Cholestasis, Death in childhood, Death in infan... OMIM:609313
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Recurrent respiratory i... OMIM:106700
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Fetal distress, Pulmonary arterial hypertension, Atrial septal defect, Thrombocytopenia, Neutrope... OMIM:614857
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Polysplenia, Ductus venosus agenesis, Situs inversus totalis, Patent foramen... OMIM:620642
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Failure to thrive ORPHA:91130
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Recurrent bronchitis, Asplenia, Bronchiectasis OMIM:244400
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Failure to thrive, Abnormal natural killer cell mo... OMIM:615617
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti... ORPHA:51636
Autosomal Dominant Spastic Paraplegia Type 19
Male sexual dysfunction, Female sexual dysfunction ORPHA:100999
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Leukopenia, Pulmonary arterial hypertension, Type 2 muscle fiber atrophy, Thrombocy... OMIM:613845
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Leukopenia, Pleuritis, Splenomegaly, Myositis, Hepatomegaly, Pulmona... ORPHA:809
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Impaired T cell function, Congestive heart failure, Lym... ORPHA:1830
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Elevated circulating creatinine concentration, Hypocalcemia, Abscess,... ORPHA:36234
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Peritonitis ORPHA:656
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis ORPHA:71277
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Atelectasis, Generalized abnormality of skin, Eosinophilia, Recurrent respiratory infections, Cle... ORPHA:2314
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:319213
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Autoimmune Pulmonary Alveolar Proteinosis
Crazy paving pattern, Increased circulating lactate dehydrogenase concentration, Intraalveolar ph... ORPHA:747
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large placenta, Diastasis recti, Ventricular septal ... ORPHA:254534
Congenital Syphilis
Pneumonia, Extramedullary hematopoiesis, Hepatosplenomegaly, Petechiae, Anemia, Pancreatitis, Thr... ORPHA:499009
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Tetralogy of Fallot, Leukopenia, Portal hypertension, Encephalocele,... ORPHA:974
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocy... OMIM:208085
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Recurrent respiratory infections OMIM:619063
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect OMIM:614261
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Elevated circulating hepatic trans... ORPHA:400
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... ORPHA:464343
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Secondary Short Bowel Syndrome
Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolo... ORPHA:95427
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Failure to thrive, Pancytopenia, Decreased proportion of CD4-positive hel... ORPHA:572
Interstitial Lung And Liver Disease
Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intraalveolar phosph... OMIM:615486
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Neuralgic Amyotrophy
Bifid uvula, Acrocyanosis, Cleft palate ORPHA:2901
Mitchell-Riley Syndrome
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... OMIM:615710
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leuk... OMIM:259720
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Congestive heart failure, Telangiectasia of the skin, Pulmonary arterial hyp... ORPHA:220393
Scorpion Envenomation
Priapism ORPHA:466677
Fetal Akinesia Deformation Sequence 1
Generalized amyotrophy, Congenital contracture, Premature birth, Decreased muscle mass, Camptodac... OMIM:208150
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Diffuse reticular or finely nodular infiltrations, Hypoxemia, Cyanosis ORPHA:91359
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... ORPHA:309108
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level, Abn... ORPHA:103907
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Biliary cirrhosis, Hypotriglyceridemia, Abnormal circulating lipid concentration... ORPHA:2298
Bronchiolitis Obliterans
Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Hyp... ORPHA:1303
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Yellow Nail Syndrome
Pulmonary arterial hypertension, Recurrent respiratory infections, Pleuritis, Bronchiectasis, Neo... ORPHA:662
Acute Liver Failure
Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Hepa... ORPHA:90062
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Systolic h... ORPHA:980
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... ORPHA:131
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... OMIM:613658
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Short-Rib Thoracic Dysplasia 12
Pulmonary hypoplasia, Periportal fibrosis, Atelectasis, Hamartoma of tongue, Intestinal malrotati... OMIM:269860
Truncus Arteriosus
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Aortic regurgitati... ORPHA:3384
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase... ORPHA:77261
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Schimke Immunoosseous Dysplasia
Lymphopenia, Transient ischemic attack, Cerebral ischemia, Pancytopenia, Abnormal T cell morpholo... OMIM:242900
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure OMIM:178400
Hemochromatosis, Type 4
Impotence OMIM:606069
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Pudendal Neuralgia
Dyspareunia, Erectile dysfunction ORPHA:60039
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Oligohydramnios, Portal hypertension, Situs inversus t... OMIM:267010
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... OMIM:619313
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Cyanosis, Pneumothorax, Recurrent respiratory infections, H... ORPHA:2257
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia, Decreased circulating nicotinamide adenine dinucleotid... OMIM:250800
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea... OMIM:618394
Gaucher Disease Type 1
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Leukope... ORPHA:77259
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Acquired Purpura Fulminans
Hepatic failure, Macular purpura, Thrombocytopenia, Elevated circulating C-reactive protein conce... ORPHA:49566
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia, Hypocalcemia DECIPHER:16
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Impotence, Oligomenorrhea ORPHA:91354
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Pneumonia, Recurrent upper respiratory tract infections, Macroglossia, Sinus... OMIM:253200
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia... OMIM:242700
Erythrocytosis, Familial, 2
Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi... OMIM:263400
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Reduced circulating transferrin concentration, Hypocholesterolemia, Lymphopenia,... ORPHA:90363
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wa... ORPHA:3309
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... OMIM:619611
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Pr... ORPHA:95430
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Decreased circulating IgG level, Congestive heart failure, Hypertrophic cardiomyopa... ORPHA:505248
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Weight loss ORPHA:1332
Pulmonary Alveolar Microlithiasis
Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Ground-glass opac... ORPHA:60025
Prolactinoma
Irregular menstruation, Male hypogonadism, Abnormality of the menstrual cycle, Hypogonadism, Decr... ORPHA:2965
Laryngotracheoesophageal Cleft
Cyanosis, Recurrent respiratory infections, Impaired oropharyngeal swallow response ORPHA:2004
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular sept... OMIM:613404
Griscelli Syndrome Type 2
Hemophagocytosis, Premature graying of hair, Pancytopenia, Splenomegaly, Petechiae, Pulmonary inf... ORPHA:79477
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... ORPHA:79124
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Pulmonary hypoplasia, Pulmonary artery atresia, Congestive heart failure,... ORPHA:99050
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hereditary Methemoglobinemia
Cyanosis, Methemoglobinemia, Small for gestational age ORPHA:621
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h... OMIM:235700
Encephalopathy, Ethylmalonic
Elevated circulating butyrylcarnitine concentration, Failure to thrive, Petechiae, Death in infan... OMIM:602473
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Achalasia ORPHA:2400
Laryngeal Abductor Paralysis
Dysphagia, Cyanosis OMIM:150260
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis, Abnormal duodenum morphology, Glossoptosis, Tongue nodule... ORPHA:2886
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence OMIM:235200
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Necrotizing Enterocolitis
Leukocytosis, Cyanosis, Hyponatremia, Peritonitis, Neutropenia, Thrombocytopenia, Small for gesta... ORPHA:391673
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Impotence, Autonomic erectile dysfunction OMIM:169500
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... OMIM:601346
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Narcolepsy Type 1
Male sexual dysfunction, Female sexual dysfunction ORPHA:2073
Systemic Sclerosis
Intestinal bleeding, Right ventricular failure, Abnormal pulmonary interstitial morphology, Nail ... ORPHA:90291
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Immunodeficiency 82 With Systemic Inflammation
Hypoalbuminemia, Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T ce... OMIM:619381
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Gastrointestinal hemorrhage, Intestinal obstruction, Peritonitis, Hepatomegaly, Acrocya... ORPHA:343
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona... ORPHA:71493
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Thro... OMIM:300048
Manganese Poisoning
Impotence, Decreased female libido, Decreased male libido ORPHA:306682
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia, Cerebral hemorrhage, Anemia, Fi... OMIM:600376
Multiple Myeloma
Elevated circulating creatinine concentration, Splenomegaly, Weight loss, Anemia, Hyperproteinemi... ORPHA:29073
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... OMIM:618986
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating hepatic transaminase... ORPHA:99826
Alg12-Cdg
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypo... ORPHA:79324
Fucosidosis
Failure to thrive, Vascular skin abnormality, Abnormality of the gallbladder, Hepatomegaly, Acroc... ORPHA:349
Pure Autonomic Failure
Impotence ORPHA:441
Juvenile Polyposis Syndrome
Brain abscess, Failure to thrive, Hepatic arteriovenous malformation, Anemia, Extrahepatic portal... ORPHA:2929
Non-Functioning Pituitary Adenoma
Irregular menstruation, Male hypogonadism, Abnormality of the menstrual cycle, Hypogonadism, Decr... ORPHA:91349
Poems Syndrome
Visceromegaly, Polycythemia, Pleural effusion, Splenomegaly, Increased circulating antibody level... ORPHA:2905
Congenital Tracheal Stenosis
Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Ab... ORPHA:141127
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusi... OMIM:615067
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Increased nuchal t... ORPHA:280633
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Premature ... OMIM:300855
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Restrictive Dermopathy
Premature birth, Camptodactyly of finger, Small placenta, Large placenta, Multiple joint contract... ORPHA:1662
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Azoospermia, Increased female libido, Hypogonadot... ORPHA:432
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Hyposerinemia, Hyperglycinemia, Cyanotic episode ORPHA:284417
Immunodeficiency 87 And Autoimmunity
Premature rupture of membranes, Dilated cardiomyopathy, Third degree atrioventricular block, Bive... OMIM:619573
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch... ORPHA:99827
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... OMIM:208540
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Colonic diverticula, Hepatic fibrosis, Hepatic failure, Elevated gamma-... OMIM:243800
Fg Syndrome Type 1
Umbilical hernia, Mitral valve prolapse, Pulmonary arterial hypertension, Progressive flexion con... ORPHA:93932
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isom... OMIM:613470
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,... ORPHA:538
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp... OMIM:602782