Terminology Service for NFDI4Health
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Go to external page
http://purl.obolibrary.org/obo/MONDO_0008264
A genetic kidney disease that causes progressive loss of kidney function caused by mutations in the genes encoding uromodulin (UMOD), hepatocyte nuclear factor-1β (HNF1B), renin (REN), or mucin-1 (MUC1). [ http://www.ncbi.nlm.nih.gov/pubmed/25738250 ]
Term info
Label
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Synonyms
- ADTKD
- autosomal dominant interstitial kidney disease
- autosomal dominant medullary cystic kidney disease
- autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Subsets
gard_rare, ordo_disease
broadMatch
https://omim.org/entry/609886, https://omim.org/entry/603860
exactMatch
http://linkedlifedata.com/resource/umls/id/C4511620, http://linkedlifedata.com/resource/umls/id/CN536252, http://identifiers.org/snomedct/444699000, http://purl.obolibrary.org/obo/Orphanet_34149, http://linkedlifedata.com/resource/umls/id/CN204412, http://identifiers.org/medgen/358137, http://linkedlifedata.com/resource/umls/id/C4054549, http://identifiers.org/mesh/C536137, http://identifiers.org/medgen/881357
has related synonym
medullary cystic disease, medullary cystic kidney disease, autosomal dominant tubulointerstitial kidney disease, polycystic kidneys, medullary type, MCKD
id
MONDO:0008264
see also
https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease