loading...| Preferred Name | renal cysts and diabetes syndrome | |
| Synonyms |
maturity-onset diabetes of the Young, type 5 glomerulocystic kidney, familial hypoplastic maturity-onset diabetes of the young type 5 FJHN, atypical MODY type 5 FJHN atypical glomerulocystic kidney disease, hypoplastic type hyperuricemic nephropathy, familial juvenile, atypical renal cysts and diabetes syndrome CAKUT with diabetes maturity onset diabetes of the Young, type 5 renal cysts-maturity-onset diabetes of the young syndrome hypoplastic type glomerulocystic kidney disease HNF1B-related renal cysts and diabetes syndrome hepatocyte nuclear Factor 1-beta-associated monogenic diabetes atypical FJHN congenital anomalies of the kidney and urinary tract with diabetes renal dysfunction-early-onset diabetes syndrome familial hypoplastic glomerulocystic kidney RCAD syndrome atypical familial juvenile hyperuricemic nephropathy HNF1B-MODY MODY5 RCAD |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007669 |
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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007669 |
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| database_cross_reference |
MESH:C535520 DECIPHER:47 OMIM:137920 UMLS:C0431693 Orphanet:93111 NCIT:C123018 MEDGEN:96569 SCTID:446641003 DOID:0111101 NANDO:2201073 GARD:10221 |
|
| 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. |
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| has_exact_synonym |
renal cysts and diabetes syndrome CAKUT with diabetes maturity onset diabetes of the Young, type 5 renal cysts-maturity-onset diabetes of the young syndrome hypoplastic type glomerulocystic kidney disease HNF1B-related renal cysts and diabetes syndrome hepatocyte nuclear Factor 1-beta-associated monogenic diabetes atypical FJHN congenital anomalies of the kidney and urinary tract with diabetes renal dysfunction-early-onset diabetes syndrome familial hypoplastic glomerulocystic kidney RCAD syndrome atypical familial juvenile hyperuricemic nephropathy HNF1B-MODY MODY5 RCAD |
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| has_related_synonym |
maturity-onset diabetes of the Young, type 5 glomerulocystic kidney, familial hypoplastic maturity-onset diabetes of the young type 5 FJHN, atypical MODY type 5 FJHN atypical glomerulocystic kidney disease, hypoplastic type hyperuricemic nephropathy, familial juvenile, atypical |
|
| id |
MONDO:0007669 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
renal cysts and diabetes syndrome |
|
| notation |
MONDO:0007669 |
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| preferred label |
renal cysts and diabetes syndrome |
|
| prefLabel |
renal cysts and diabetes syndrome |
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| see also |
https://rarediseases.info.nih.gov/diseases/10221/maturity-onset-diabetes-of-the-young-type-5 |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_0111101 http://identifiers.org/snomedct/446641003 http://identifiers.org/mesh/C535520 http://linkedlifedata.com/resource/umls/id/C0431693 http://identifiers.org/medgen/96569 |
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| subClassOf |