FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

vitamin D-dependent rickets type 2A
Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0080884

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

vitamin D-dependent rickets type 2A

prefixIRI

DOID:0080884

prefLabel

vitamin D-dependent rickets type 2A

subClassOf

http://purl.obolibrary.org/obo/DOID_0080883

http://purl.obolibrary.org/obo/DOID_0050737

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