Preferred Label : DAX1 Deficiency;
NCIt synonyms : NR0B1 Deficiency; DSS-AHC Critical Region on the X Chromosome 1 Deficiency; Nuclear Receptor Subfamily 0 Group B Member 1 Deficiency; Nuclear Receptor DAX1 Deficiency;
NCIt related terms : Dosage Sensitive Sex Reversal - Adrenal Hypoplasia Congenita Critical Region On The
X Chromosome 1 Deficiency; Cytomegalic Form of AHC;
NCIt definition : Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s) in
the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita that
may be associated with hypogonadotropic hypogonadism.;
Alternative definition : NICHD: Decreased activity of the nuclear receptor protein DAX1, caused by mutation(s)
in the NR0B1 gene (on the X chromosome), resulting in adrenal hypoplasia congenita,
which may be associated with hypogonadotropic hypogonadism.;
Origin ID : C120374;
UMLS CUI : C4055166;
Semantic type(s)
- concept_is_in_subset
- related_to_genetic_biomarker
