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:
Ontology: Human Disease   (DOID:0080886)
OTHER vitamin D-dependent rickets type 1A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CYP27B1 Vitamin D-dependent rickets, type I 264700
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None