ZFIN Human Disease: vitamin D-dependent rickets type 1A

OBO ID: DOID:0080886

Term Name:	vitamin D-dependent rickets type 1A		Search Ontology:
Synonyms:
Definition:	A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. (2)
References:	OMIM:264700 ORDO:289157
Ontology:	Human Disease ( DOID:0080886 )

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 1A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CYP27B1	cyp27b1	Vitamin D-dependent rickets, type I	264700

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None