|
Holt Oram Syndrome |
approved
|
142900 |
|
|
Homocystinuria |
approved
|
236200 |
|
|
|
|
Homozygous familial hypercholesterolaemia (approved when homozygously inherited but not when heterozygously inherited) |
approved
|
143890 |
|
|
Huntington Disease (Huntington Chorea) (HD) |
approved
|
143100 |
|
|
Huntington disease-like (HDL1) |
approved
|
603218 |
|
|
|
|
Hutchinson-Gilford Progeria Syndrome (HGPS) |
approved
|
176670 |
|
|
|
|
Hyaline Fibromatosis Syndrome (HFS) |
approved
|
228600 |
|
|
|
|
Hyper IgM Syndrome - Hypogammaglobulinaemia* |
approved
|
308230 |
|
|
Hyper-IgE Recurrent Infection Syndrome, Autosomal Dominant |
approved
|
147060 |
|
|
Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) |
approved
|
261640 |
|
|
|
|
Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) |
approved
|
233910 |
|
|
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) |
approved
|
261630 |
|
|
|
|
Hyperphosphatasia with intellectual disability syndrome 2 |
approved
|
614749 |
|
|
|
|
Hyperphosphatasia with intellectual disability syndrome 3 |
approved
|
614207 |
|
|
|
|
Hyperphosphatasia with intellectual disability syndrome 5 |
approved
|
616025 |
|
|
|
|
Hyperphosphatasia with intellectual disability syndrome 6 |
approved
|
616809 |
|
|
|
|
Hyperphosphatasia with intellectual disability syndrome 7 |
approved
|
280000 |
|
|
|
|
Hyperphosphatasia with Mental Retardation Syndrome 4 (HPMRS4) |
approved
|
615716 |
|
|
|
|
Hypertrophic Neuropathy of Dejerine-Sottas (HNDS) |
approved
|
145900 |
|
|
|
|
Hypocalcemia, autosomal dominant 1 (HYPOC1) |
approved
|
601198 |
|
|
|
