Ontology Browser

Parent Terms Term With Siblings Child Terms
monogenic disease +     
Alport syndrome +   
amyotrophic lateral sclerosis +   
autosomal genetic disease +   
A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)
Bartter disease +   
basal laminar drusen  
Brugada syndrome 2  
Brugada syndrome 3  
Brugada syndrome 4  
Brugada syndrome 5  
Brugada syndrome 6  
Brugada syndrome 8  
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome +   
cataract +   
catecholaminergic polymorphic ventricular tachycardia +   
Cayman type cerebellar ataxia  
Charcot-Marie-Tooth disease +   
cone-rod dystrophy +   
Opitz-GBBB syndrome +   
X-linked monogenic disease +   
Y-linked monogenic disease +   


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