Any nephronophthisis in which the cause of the disease is a mutation in the GLIS2 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: nephronophthisis (disease) caused by mutation in GLIS2 nephronophthisis type 7 NPHP7 nephronophthisis 7 GLIS2 nephronophthisis (disease)
Term information
- MESH:C566930 (MONDO:equivalentTo)
- OMIM:611498 (MONDO:equivalentTo)
- DOID:0111116 (MONDO:equivalentTo)
- UMLS:C1969092 (OMIM:611498)
rare, nord_rare, clingen
http://linkedlifedata.com/resource/umls/id/C1969092
https://omim.org/entry/611498
http://identifiers.org/mesh/C566930
http://purl.obolibrary.org/obo/DOID_0111116