Visualize Submit Comment
Metadata
ID DOID:0061243
PURL http://purl.obolibrary.org/obo/DOID_0061243 Copy
Name glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
Definition A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NNT gene on chromosome 5p12.
https://pubmed.ncbi.nlm.nih.gov/22634753/
Xrefs

MIM:614736

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