focal segmental glomerulosclerosis 3, susceptibility to
Go to external page http://purl.obolibrary.org/obo/MONDO_0011917
Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: focal segmental glomerulosclerosis caused by mutation in CD2AP focal segmental glomerulosclerosis 3, susceptibility to CD2AP focal segmental glomerulosclerosis glomerulosclerosis, focal segmental, 3
Term information
- UMLS:C1842982 (MONDO:equivalentTo)
- MEDGEN:335850 (MONDO:equivalentTo)
- DOID:0112245 (MONDO:equivalentTo)
- OMIM:607832 (MONDO:equivalentTo)
predisposition
http://linkedlifedata.com/resource/umls/id/C1842982
http://purl.obolibrary.org/obo/DOID_0112245
https://omim.org/entry/607832
http://identifiers.org/medgen/335850
susceptibility to focal segmental glomerulosclerosis 3
FSGS3
glomerulosclerosis, focal segmental, 3, susceptibility to
Term relations
- inherited disease susceptibility and has material basis in germline mutation in some CD2AP and predisposes towards some inherited focal segmental glomerulosclerosis