Alternative names (5)
Orphanet • Orphanet ID • OrphanetID • hasOrphaNumber • hasOrphanetNumberRandom triples
| Subject | Object |
|---|---|
| gptkb:PKAN | gptkb:ORPHA:211 |
| gptkb:glycogen_storage_disease_type_XII | ORPHA:363 |
| gptkb:Omenn_syndrome | ORPHA:2827 |
| gptkb:malignant_paraganglioma | gptkb:ORPHA:324 |
| gptkb:Marshall-Smith_syndrome | 358 |
| gptkb:Human_Hereditary_Ataxia | ORPHA:98757 |
| gptkb:hereditary_coproporphyria | gptkb:ORPHA792 |
| gptkb:NK-cell_large_granular_lymphocyte_leukemia | ORPHA:98256 |
| gptkb:congenital_tufting_enteropathy | ORPHA:1990 |
| gptkb:porphyria_cutanea_tarda | 792 |
| gptkb:hypophosphatasia | ORPHA:167 |
| gptkb:CDKL5_deficiency_disorder | 3302 |
| gptkb:tuberous_sclerosis_complex | 805 |
| gptkb:Klippel–Trénaunay_syndrome | ORPHA:2512 |
| gptkb:Neurofibromatosis_type_1 | 636 |
| gptkb:multiminicore_disease | ORPHA:365 |
| gptkb:Noonan_syndrome-like_disorder_with_NF1_mutations | ORPHA:96381 |
| gptkb:16p11.2_deletion_syndrome | ORPHA:261402 |
| gptkb:leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation_(LBSL) | ORPHA:210548 |
| gptkb:Osler-Weber-Rendu_disease | 774 |