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

OBO ID: DOID:0080887

Term Name:	vitamin D-dependent rickets type 1B		Search Ontology:
Synonyms:
Definition:	A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. (2)
References:	OMIM:600081 ORDO:289157
Ontology:	Human Disease ( DOID:0080887 )

Relationships

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

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CYP2R1	cyp2r1	Rickets due to defect in vitamin D 25-hydroxylation deficiency	600081

ZEBRAFISH MODELS

Fish	Conditions	Citations
cyp2r1^zf734/zf734	standard conditions	Cortes et al., 2015

PHENOTYPE No data available

CITATIONS (1)