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Ontology Browser

Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
autosomal dominant disease +   
An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)
autosomal recessive disease +   
brachydactyly-syndactyly syndrome  
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
Matthew-Wood syndrome  
McCune Albright syndrome  
Robinow syndrome +   
septooptic dysplasia +   
Weill-Marchesani syndrome +   
 Carney complex +   
 cherubism +   
 Cowden syndrome +   
 EEC syndrome +   
 Lynch syndrome +   
 monilethrix +   
 paraganglioma +   
 piebaldism +   


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.