ZFIN Human Disease: Dent disease

OBO ID: DOID:0050699

Term Name:	Dent disease		Search Ontology:
Synonyms:	Dent disease 1 Dent disease 2 Dent's disease
Definition:	A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in X-linked recessive inheritance of mutations in the CLCN5 gene or OCRL1 gene. (4)
References:	GARD:13105 MESH:C538212 MESH:C564487 MESH:D057973 NCI:C123260 OMIM:300009 OMIM:300555 ORDO:1652 SNOMEDCT_US_2023_03_01:444645005 SNOMEDCT_US_2023_03_01:717789008 SNOMEDCT_US_2023_03_01:717790004 UMLS_CUI:C0878681 UMLS_CUI:C1845167 UMLS_CUI:C1848336
Ontology:	Human Disease ( DOID:0050699 )

Relationships

is a type of:	renal tubular transport disease X-linked recessive disease renal tubular transport disease X-linked recessive disease Show first 5 Terms
has subtype:	low molecular weight proteinuria with hypercalciuric nephrocalcinosis low molecular weight proteinuria with hypercalciuric nephrocalcinosis Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CLCN5	clcn5a clcn5b	Dent disease 1	300009
OCRL	ocrl	Dent disease 2	300555

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)