Visualize Submit Comment
Metadata
ID DOID:0061244
PURL http://purl.obolibrary.org/obo/DOID_0061244 Copy
Name glucocorticoid deficiency 5
Definition A familial glucocorticoid deficiency that has_material_basis_in homozygous mutation in the TXNRD2 gene on chromosome 22q11.
https://pubmed.ncbi.nlm.nih.gov/24601690/
Xrefs

MIM:617825

Parent Relationships

is_a autosomal recessive disease

is_a familial glucocorticoid deficiency

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker