Visualize Submit Comment
Metadata
ID DOID:0080156
Name X-linked adrenal hypoplasia congenita
Definition An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene.
http://www.ncbi.nlm.nih.gov/books/NBK1431/, https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita, https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes, https://www.ncbi.nlm.nih.gov/pubmed/27376611
Xrefs

GARD:555

OMIM:300200

Subsets

DO_rare_slim

Synonyms

congenital adrenal hypoplasia [EXACT]

Parent Relationships

is_a adrenal cortical hypofunction

is_a X-linked recessive disease

Add an item to the term tracker