| Abbreviations | Meaning |
 | GENPS | Genital Neoplasm-papilloma Syndrome |
| MERRLA | Myoclonus Epilepsy-ragged Red Fibers-lactic Acidosis [syndrome] |
| ARC | Arthrogryposis-renal Dysfunction-cholestasis [syndrome]; Association For Retarded Children; Atypical Reparative Changes; Automatic Exposure Control |
| CCS | Cloudy Cornea Syndrome |
| US4 | Usher Syndrome Type IV |
| MPS | Meconium Plug Syndrome |
| TINU | Tubulo-interstitial Nephritis-uveitis [syndrome] |
| DGSX | X-linked Dysplasia Gigantism Syndrome |
| ASSA, ASSAS | Aminopterin-like Syndrome Sine Aminopterin |
| VS | Vogt-Spielmeyer [syndrome] |
| VCFS | Velo-cardio-facial Syndrome |
| HCS | Hajdu-Cheney Syndrome |
| ADCS | Argonz Del Castillo Syndrome |
| PACT | Prospective Acute Coronary Syndrome Trial |
| ICTS | Idiopathic Carpal Tunnel Syndrome |
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