Panel | Mode of inheritance | Details |
---|---|---|
8 panels | ||
Green in ArthrogryposisR-numbers: R83 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Nail-patella syndrome, 161200, Nail Patella syndrome, NPS |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NAIL-PATELLA SYNDROME 161200 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes NAIL-PATELLA SYNDROME |
Green in Limb disordersComponent of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Nail-patella syndrome 161200 |
Green in Proteinuric renal diseaseR-numbers: R195 Signed-off version 4.13 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Nail-patella syndrome #161200, FSGS, proteinuria, kidney failure, isolated glomerulopathy |
Green in Skeletal dysplasiaComponent of the following Super Panels:
R-numbers: R104 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Nail-patella syndrome 161200, Nail-patella syndrome 161200 |
Green in Structural eye diseaseR-numbers: R36 Signed-off version 4.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Nail-patella syndrome, OMIM:161200 |
R-numbers: R257 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Nail-patella syndrome 161200 |