|
Epiphyseal Dysplasia, Multiple, 7 (EDM7) |
approved
|
617719 |
|
|
|
|
Episodic Ataxia Type 2 (EA2) |
approved
|
108500 |
|
|
|
|
Episodic Kinesigenic Dyskinesia type1 (EKD1) |
approved
|
128200 |
|
|
|
|
Facioscapulohumeral Muscular Dystrophy (FSHD1) |
approved
|
158900 |
|
|
Facioscapulohumeral Muscular Dystrophy Type 2 (FSHD2) |
approved
|
158901 |
|
|
|
|
Factor XIII deficiency |
approved
|
613225 |
|
|
|
|
Familial Adenomatous polyposis 1 (FAP1) |
approved
|
175100 |
|
|
Familial Adenomatous Polyposis 2 (FAP2) (MUTYH-associated polyposis) |
approved
|
608456 |
|
|
|
|
Familial Creutzfeldt-Jakob disease (fCJD), |
approved
|
123400 |
|
|
|
|
Familial Dysautonomia |
approved
|
223900 |
|
|
|
|
Familial Fatal Insomnia |
approved
|
600072 |
|
|
|
|
Familial Haemophagocytic Lymphohistiocytosis type 3 (FHL3) |
approved
|
608898 |
|
|
|
|
Familial Haemophagocytic Lymphohistiocytosis type 4 |
approved
|
603552 |
|
|
|
|
Familial Hemophagocytic Lymphohistiocytosis (FHL) |
approved
|
603553 |
|
|
Familial Hemophagocytic Lymphohistiocytosis 5 (FHL5) |
approved
|
613101 |
|
|
|
|
Familial Hypertrophic Cardiomyopathy 4 (CMH4) |
approved
|
115197 |
|
|
|
|
Familial Hypertrophic Cardiomyopathy type 1, 3, 7 and 10 (CMH1 , CMH3, CMH7, CMH10) |
approved
|
192600, 115196, 613690, 608758 |
|
|
|
|
Familial Infantile Myoclonic Epilepsy (FIME) |
approved
|
605021 |
|
|
|
|
Familial Juvenile Hyperuricemic Nephropathy 1 (HNFJ1) |
approved
|
162000 |
|
|
|
|
Familial Myelodysplastic Syndrome |
approved
|
614286 |
|
|
|
