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Ontology Browser

Parent Terms Term With Siblings Child Terms
congenital hemidysplasia with ichthyosiform erythroderma and limb defects pathway  
Fabry disease pathway +   
An X-linked inherited metabolic disorder resulting from alterations in lipid metabolic pathways. It is due to defects in alpha-galactosidase leading to accumulation of glycosphingolipids in blood vessels.
Gaucher's disease pathway  
metachromatic leukodystrophy pathway  
X-linked dominant chondrodysplasia punctata 2 pathway  
X-linked intellectual disability pathway +   

Related Synonyms: SMP:00525
Definition Sources: MeSH:D000795, OMIM:301500

paths to the root