Alternative names (5)
Orphanet • Orphanet ID • OrphanetID • hasOrphaNumber • hasOrphanetNumberRandom triples
Subject | Object |
---|---|
gptkb:progressive_osseous_heteroplasia | ORPHA:98853 |
gptkb:leukoencephalopathy_with_brain_stem_and_spinal_cord_involvement_and_lactate_elevation_(LBSL) | ORPHA:210548 |
gptkb:Osteogenesis_imperfecta_type_II | ORPHA:666 |
gptkb:glycogen_storage_disease_type_XII | ORPHA:363 |
gptkb:giant_cell_tumor_of_bone | ORPHA:318 |
gptkb:congenital_myasthenic_syndrome | ORPHA:590 |
gptkb:Leber_congenital_amaurosis | ORPHA58 |
gptkb:Mucopolysaccharidosis_type_I | ORPHA:558 |
gptkb:Emery-Dreifuss_muscular_dystrophy | ORPHA:177 |
gptkb:Tetralogy_of_Fallot | Orphanet:705 |
gptkb:infantile_myofibromatosis | ORPHA:2846 |
gptkb:Dravet_syndrome | 3301 |
gptkb:Osler-Weber-Rendu_syndrome_type_2 | ORPHA:600 |
gptkb:tuberous_sclerosis_complex | 805 |
gptkb:myosin_storage_myopathy | ORPHA:98853 |
gptkb:SCA3 | ORPHA98753 |
gptkb:Muenke_syndrome | ORPHA:98848 |
gptkb:NF1_microdeletion_syndrome | ORPHA:96365 |
gptkb:idiopathic_Parkinson's_disease | gptkb:Parkinson_disease_(ORPHA:411) |
gptkb:EGPA | ORPHA:911 |