Term Name: vitamin D-dependent rickets type 1B
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.
Ontology: Human Disease [DOID:0080887]   ( DOID:0080887 )

Relationships
is a type of: autosomal recessive disease vitamin D-dependent rickets