Any nephronophthisis in which the cause of the disease is a mutation in the MAPKBP1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: nephronophthisis 20 nephronophthisis (disease) caused by mutation in MAPKBP1 nephronophthisis type 20 MAPKBP1 nephronophthisis (disease) NPHP20
Term information
- GARD:18181 (OMIM:617271)
- OMIM:617271 (MONDO:equivalentTo)
- DOID:0111127 (MONDO:equivalentTo)
- UMLS:C4310640 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
https://omim.org/entry/617271
http://linkedlifedata.com/resource/umls/id/C4310640
http://purl.obolibrary.org/obo/DOID_0111127