Mondo Disease Ontology - renal cysts and diabetes syndrome - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0007669 http://purl.obolibrary.org/obo/MONDO_0007669
Preferred Name	renal cysts and diabetes syndrome
Definitions	Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.
Synonyms	glomerulocystic kidney disease, hypoplastic type glomerulocystic kidney, familial hypoplastic maturity-onset diabetes of the young type 5 FJHN atypical MODY type 5 maturity-onset diabetes of the Young, type 5 FJHN, atypical hyperuricemic nephropathy, familial juvenile, atypical HNF1B-MODY RCAD renal cysts and diabetes syndrome renal cysts-maturity-onset diabetes of the young syndrome RCAD syndrome atypical familial juvenile hyperuricemic nephropathy hepatocyte nuclear Factor 1-beta-associated monogenic diabetes hypoplastic type glomerulocystic kidney disease familial hypoplastic glomerulocystic kidney maturity onset diabetes of the Young, type 5 MODY5 atypical FJHN renal dysfunction-early-onset diabetes syndrome CAKUT with diabetes HNF1B-related renal cysts and diabetes syndrome congenital anomalies of the kidney and urinary tract with diabetes See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	Renal cysts and diabetes syndrome (RCAD) is a rare form of maturity-onset diabetes of the young (MODY) characterized clinically by heterogeneous cystic renal disease and early-onset familial non-autoimmune diabetes. Pancreatic atrophy, liver dysfunction and genital tract anomalies are also features of the syndrome.
label	renal cysts and diabetes syndrome
prefLabel	renal cysts and diabetes syndrome
database_cross_reference	NCIT:C123018 UMLS:C0431693 MESH:C535520 MEDGEN:96569 DOID:0111101 NANDO:2201073 GARD:10221 SCTID:446641003 Orphanet:93111 OMIM:137920 DECIPHER:47 See more See less
notation	MONDO:0007669
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare See more See less
has_related_synonym	glomerulocystic kidney disease, hypoplastic type glomerulocystic kidney, familial hypoplastic maturity-onset diabetes of the young type 5 FJHN atypical MODY type 5 maturity-onset diabetes of the Young, type 5 FJHN, atypical hyperuricemic nephropathy, familial juvenile, atypical See more See less
id	MONDO:0007669
skos_exactMatch	http://purl.obolibrary.org/obo/DOID_0111101 https://omim.org/entry/137920 http://identifiers.org/snomedct/446641003 http://identifiers.org/mesh/C535520 http://linkedlifedata.com/resource/umls/id/C0431693 http://identifiers.org/medgen/96569 http://purl.obolibrary.org/obo/Orphanet_93111 http://purl.obolibrary.org/obo/NCIT_C123018 See more See less
seeAlso	https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5
excluded_from_qc_check	http://purl.obolibrary.org/obo/mondo/sparql/qc/mondo/qc-omim-subsumption.sparql
subClassOf	http://purl.obolibrary.org/obo/MONDO_0018911 http://purl.obolibrary.org/obo/MONDO_0002254
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0007669
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	HNF1B-MODY RCAD renal cysts and diabetes syndrome renal cysts-maturity-onset diabetes of the young syndrome RCAD syndrome atypical familial juvenile hyperuricemic nephropathy hepatocyte nuclear Factor 1-beta-associated monogenic diabetes hypoplastic type glomerulocystic kidney disease familial hypoplastic glomerulocystic kidney maturity onset diabetes of the Young, type 5 MODY5 atypical FJHN renal dysfunction-early-onset diabetes syndrome CAKUT with diabetes HNF1B-related renal cysts and diabetes syndrome congenital anomalies of the kidney and urinary tract with diabetes See more See less
treeView	http://purl.obolibrary.org/obo/MONDO_0018911 http://purl.obolibrary.org/obo/MONDO_0002254

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