Term Name: vitamin D-dependent rickets type 1A
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.
Ontology: Human Disease [DOID:0080886]   ( DOID:0080886 )

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