WormMine: DiseaseOntology DOID:0111101 maturity-onset diabetes of the young type 5 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.

1 Ontology

• Name: Disease Ontology

12 Parents

Identifier	Name	Description
DOID:4	disease	A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667	disease of metabolism	A disease that involves errors in metabolic processes of building or degradation of molecules.
DOID:0050177	monogenic disease	A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630	genetic disease	A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736	autosomal dominant disease	An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739	autosomal genetic disease	A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:655	inherited metabolic disorder	A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:9351	diabetes mellitus	A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both.
DOID:0050524	maturity-onset diabetes of the young	A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects.
DOID:2978	carbohydrate metabolic disorder	An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates.
DOID:4194	glucose metabolism disease	A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range.
DOID:0111101	maturity-onset diabetes of the young type 5	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.

11 Relations

Relationship	Parent Term . Identifier	Child Term . Identifier
is_a	DOID:0050524	DOID:0111101
is_a	DOID:9351	DOID:0111101
is_a	DOID:0050739	DOID:0111101
is_a	DOID:0050736	DOID:0111101
is_a	DOID:0050177	DOID:0111101
is_a	DOID:630	DOID:0111101
is_a	DOID:655	DOID:0111101
is_a	DOID:4	DOID:0111101
is_a	DOID:0014667	DOID:0111101
is_a	DOID:4194	DOID:0111101
is_a	DOID:2978	DOID:0111101

9 Synonyms

• Name: atypical familial juvenile hyperuricemic nephropathy
• Type: synonym

• Name: atypical FJHN
• Type: synonym

• Name: CAKUT with diabetes
• Type: synonym

• Name: congenital anomalies of the kidney and urinary tract with diabetes
• Type: synonym

• Name: familial hypoplastic glomerulocystic kidney
• Type: synonym

• Name: hypoplastic type glomerulocystic kidney disease
• Type: synonym

• Name: MODY5
• Type: synonym

• Name: RCAD
• Type: synonym

• Name: renal cysts and diabetes syndrome
• Type: synonym