Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
congenital adrenal hypoplasia [EXACT] |
Parent Relationships |