Term Name: vitamin D-dependent rickets type 2A
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.
Ontology: Human Disease [DOID:0080884]   ( DOID:0080884 )

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