ZFIN Human Disease: vitamin D-dependent rickets type 2A

OBO ID: DOID:0080884

Term Name:	vitamin D-dependent rickets type 2A		Search Ontology:
Synonyms:
Definition:	A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (2)
References:	OMIM:277440 ORDO:93160
Ontology:	Human Disease ( DOID:0080884 )

Relationships

is a type of:	autosomal recessive disease vitamin D-dependent rickets autosomal recessive disease vitamin D-dependent rickets Show first 5 Terms

OTHER vitamin D-dependent rickets type 2A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VDR	vdra vdrb	Rickets, vitamin D-resistant, type IIA	277440

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None