An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function. [ GARD:0007002 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN206321 (MONDO:equivalentObsolete)
  • ICD10:Q61.5 (Orphanet:88949)
  • Orphanet:88949 (MONDO:equivalentTo)
  • NCIT:C123171 (MONDO:equivalentTo)
  • OMIM:174000 (Orphanet:34149)
  • GARD:0007002 (shared-umls-xref)
  • UMLS:C1868139 (OMIM:174000)
Subsets

ordo_clinical_subtype

abbreviation
ADMCKD1 [ GARD:0007002 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

An inherited disorder that causes a gradual loss of kidney function, caused by a mutation in the MUC1 gene that leads to production of an abnormal mucin 1 protein, which deposits in the kidney and leads to slow loss of kidney function.

exactMatch

http://identifiers.org/omim/174000

http://www.orpha.net/ORDO/Orphanet_88949

http://purl.obolibrary.org/obo/NCIT_C123171

http://linkedlifedata.com/resource/umls/id/C1868139

http://linkedlifedata.com/resource/umls/id/CN206321

has exact synonym

autosomal dominant tubulointerstitial kidney disease due to mutations in MUC1

medullary cystic kidney disease type 1

medullary cystic kidney disease, autosomal dominant

autosomal dominant medullary cystic kidney disease without hyperuricemia

ADTKD-MUC1

MUCI-related ADTKD

MCKD1

medullary cystic kidney disease 1

MUC1-related autosomal dominant medullary cystic kidney disease

has related synonym

ADMCKD1

MUC1-related autosomal dominant tubulointerstitial kidney disease

polycystic kidneys, medullary type

Mckd

id

MONDO:0020726

seeAlso

https://rarediseases.info.nih.gov/diseases/7002/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutations