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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  
chromosome 1q41-q42 deletion syndrome +   
combined oxidative phosphorylation deficiency 55  
congenital nystagmus 1  
distal arthrogryposis type 1C  
dopamine transporter deficiency syndrome +   
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
hereditary spastic paraplegia 30  
hypophosphatasia +   
McCune Albright syndrome  
neurodevelopmental disorder with hypotonia and speech delay  
retinitis pigmentosa 86  
Robinow syndrome +   
septooptic dysplasia +   
Sotos syndrome +   
spondylocostal dysostosis 5  
syndromic microphthalmia 12  
syndromic microphthalmia 14  
syndromic microphthalmia 8 
thrombophilia due to thrombomodulin defect  
tubulinopathy  
Weill-Marchesani syndrome +   
 3-M syndrome +   
 3MC syndrome +   
 ARC syndrome +   
 bradyopsia +   
 COACH syndrome +   
 cystic fibrosis +   
 cystinosis +   
 Fraser syndrome +   
 gangliosidosis +   
 Lafora disease +   
 Seckel syndrome +   
 sitosterolemia +   
 thalassemia +   
 Usher syndrome +   
 Werner syndrome +   
 xanthinuria +