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DO Term : maturity-onset diabetes of the young type 5 [DOID:0111101] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12.

synonyms:
CAKUT with diabetes,
atypical familial juvenile hyperuricemic nephropathy,
137920,
familial hypoplastic glomerulocystic kidney,
MODY5,
congenital anomalies of the kidney and urinary tract with diabetes,
atypical FJHN,
hypoplastic type glomerulocystic kidney disease,
RCAD,
renal cysts and diabetes syndrome,
OMIM:137920

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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