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Ontology Browser

Term:
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 hemophilia A  
autosomal recessive disease +   
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
congenital nystagmus 1  
distal arthrogryposis type 1C  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
hypophosphatasia +   
McCune Albright syndrome  
progeria +   
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8  
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Weill-Marchesani syndrome +   
 CADASIL 1  
 CADASIL 2  
 Carney complex +   
 cherubism +   
 EEC syndrome +   
 lissencephaly 3 +   
 Lynch syndrome +   
 monilethrix +   
 paraganglioma +   
 piebaldism +   
 SADDAN