| 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. https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes, https://www.ncbi.nlm.nih.gov/pubmed/27376611, http://www.ncbi.nlm.nih.gov/books/NBK1431/, https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
congenital adrenal hypoplasia [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |