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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Aicardi-Goutieres syndrome +   
anencephaly +   
autosomal dominant disease +   
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  
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
exudative vitreoretinopathy 4  
factor XI deficiency  
familial adenomatous polyposis +   
familial Mediterranean fever +   
focal segmental glomerulosclerosis 3  
Gillespie syndrome  
holoprosencephaly +   
hypophosphatasia +   
lissencephaly +   
McCune Albright syndrome  
microcephaly +   
periventricular nodular heterotopia +   
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  
A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. (DO)
Weill-Marchesani syndrome +