ZFIN Human Disease: nephrogenic diabetes insipidus type 2

OBO ID: DOID:0081061

Term Name:	nephrogenic diabetes insipidus type 2		Search Ontology:
Synonyms:	autosomal nephrogenic diabetes insipidus-2
Definition:	A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. https://medlineplus.gov/ency/article/000511.htm
References:	OMIM:125800
Ontology:	Human Disease ( DOID:0081061 )

Relationships

is a type of:	autosomal dominant disease autosomal recessive disease nephrogenic diabetes insipidus autosomal dominant disease autosomal recessive disease nephrogenic diabetes insipidus Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AQP2		Diabetes insipidus, nephrogenic, 2

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None