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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
autosomal dominant disease +   
autosomal hemophilia A  
autosomal recessive disease +   
An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)
blepharophimosis, ptosis, and epicanthus inversus syndrome  
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
congenital nystagmus 1  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
Gillespie syndrome  
hypophosphatasia +   
McCune Albright syndrome  
progeria +   
Robinow syndrome +   
septooptic dysplasia +   
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8  
thrombophilia due to thrombomodulin defect  
Weill-Marchesani syndrome +   
 3-M syndrome +   
 3MC syndrome +   
 ARC syndrome +   
 cystic fibrosis +   
 cystinosis +   
 Fraser syndrome +   
 gangliosidosis +   
 Laron syndrome +   
 Seckel syndrome +   
 sitosterolemia +   
 Sotos syndrome +   
 thalassemia +   
 Usher syndrome +   
 Werner syndrome +   

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