has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of AR nuclear receptor activity hereditary disease androgen insensitivity syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/9097 https://rarediseases.info.nih.gov/diseases/5803/androgen-insensitivity-syndrome https://www.malacards.org/card/androgen_insensitivity_syndrome ICD10CM:E34.5 ICD9:259.5 ICD9:259.8 Orphanet:754 androgen insensitivity syndrome UMLS:C0039585 DOID:4674 AIS testicular feminization syndrome androgen insensitivity, X-linked recessive Androgen insensitivity syndrome (AIS) is a disorder of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). Goldberg-Maxwell syndrome MONDO:0019154 NCIT:C27226 Morris syndrome NANDO:2200391 OMIM:300068 MESH:D013734 SCTID:12313004 MedDRA:10056292 GARD:0005803 MEDGEN:21102 androgen resistance syndrome ICD9:259.51 testicular feminization syndrome (formerly) 46 XY differences of sex development