Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in Hypogonadotropic hypogonadism (GMS)R-numbers: R148 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Hypogonadotropic hypogonadism type 3 (OMIM 244200) |
R-numbers: R438 Signed-off version 1.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hirschsprung disease, MONDO:0018309 |
Green in Pituitary hormone deficiencyR-numbers: R159 Signed-off version 3.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia (244200) |