X-linked adrenal hypoplasia congenita
http://purl.obolibrary.org/obo/MONDO_0010264
A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism. [ NCIT:C123725 ]
Term info
- DOID:0080156 (MONDO:equivalentTo)
- OMIM:300200 (Orphanet:95702/e)
- SCTID:93235007 (MONDO:equivalentTo)
- Orphanet:95702 (OMIM:300200)
- NCIT:C123725 (MONDO:equivalentTo)
- UMLS:C0342482 (Orphanet:95702)
- GARD:0000555 (MONDO:equivalentTo)
ordo_disease
https://github.com/monarch-initiative/mondo/issues/4521
A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.
http://identifiers.org/snomedct/93235007, https://omim.org/entry/300200, http://linkedlifedata.com/resource/umls/id/C0342482, http://purl.obolibrary.org/obo/Orphanet_95702, http://purl.obolibrary.org/obo/NCIT_C123725, http://purl.obolibrary.org/obo/DOID_0080156
adrenal hypoplasia congenita, AHC
adrenal hypoplasia, congenital, X-linked recessive, X-linked congenital adrenal hypoplasia, X-linked adrenal hypoplasia congenita, congenital adrenal hypoplasia
adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, adrenal hypoplasia, congenital, with precocious puberty, adrenal hypoplasia, congenital, adrenal insufficiency, progressive, and hypogonadotropic hypogonadism, AHC with isolated gonadotropin deficiency, Addison disease, X-linked, AHC with HHG, cytomegalic congenital adrenal hypoplasia, mineralocorticoid deficiency, isolated, cytomegalic adrenocortical hypoplasia, X-linked AHC
MONDO:0010264