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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). [ GARD:0010801 http://www.ncbi.nlm.nih.gov/pubmed/25738250 ]

Synonyms: autosomal dominant medullary cystic kidney disease ADTKD autosomal dominant medullary cystic kidney disease with or without hyperuricemia autosomal dominant interstitial kidney disease

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:881357 (UMLS:C4054549)
  • MESH:C536137 (MONDO:equivalentTo)
  • MEDGEN:358137 (UMLS:C1868139)
  • Orphanet:34149 (OMIM:174000)
  • GARD:10801 (Orphanet:34149)
  • UMLS:C4511620 (MONDO:equivalentTo)
  • SCTID:444699000 (MONDO:equivalentTo)
  • EFO:0008617 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

closeMatch

http://identifiers.org/medgen/358137

http://identifiers.org/medgen/881357

exactMatch

http://linkedlifedata.com/resource/umls/id/C4511620

http://www.orpha.net/ORDO/Orphanet_34149

http://identifiers.org/snomedct/444699000

http://identifiers.org/mesh/C536137

has related synonym

medullary cystic disease

medullary cystic kidney disease

autosomal dominant tubulointerstitial kidney disease

polycystic kidneys, medullary type

MCKD

id

MONDO:0008264

seeAlso

https://rarediseases.info.nih.gov/diseases/10801/medullary-cystic-kidney-disease

https://search.clinicalgenome.org/kb/conditions/MONDO:0008264