Any nephronophthisis in which the cause of the disease is a mutation in the ANKS6 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: nephronophthisis (disease) caused by mutation in ANKS6 nephronophthisis type 16 nephronophthisis 16 NPHP16 ANKS6 nephronophthisis (disease)
Term information
- SCTID:444558002 (MONDO:equivalentTo)
- OMIM:615382 (Orphanet:93591)
- UMLS:C3809320 (OMIM:615382)
- Orphanet:93591 (MONDO:relatedTo)
- DOID:0111124 (MONDO:equivalentTo)
- GARD:18183 (OMIM:615382)
gard_rare, ordo_clinical_subtype, rare, nord_rare, clingen
https://omim.org/entry/615382
http://purl.obolibrary.org/obo/DOID_0111124
http://linkedlifedata.com/resource/umls/id/C3809320
http://identifiers.org/snomedct/444558002
infantile nephronophthisis
autosomal recessive infantile nephronophthisis
autosomal recessive infantile NPHP