| Abbreviations | Meaning |
 | MDS | Miller-Dieker Syndrome |
| DIDMOAD | Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, Deafness [syndrome] |
| BOR | Basal Optic Root; Before Time Of Operation; Bowels Open Regularly; Branchio-oto-renal [syndrome] |
| ESS | Excited Skin Syndrome |
| RL | Renal Dysplasia-limb Defects [syndrome] |
| CMTX | Charcot-Marie-Tooth [syndrome], X-linked |
| MRS | Magnetic Resonance Spectroscopy; Mania Rating Scale; Medical Receiving Station; Medical Record Summary; Melkersson-Rosenthal Syndrome |
| TRPS | Trichorhinophalangeal Syndrome |
| KTS | Klippel-Trenaunay Syndrome |
| CDMMS | Chorioretinal Dysplasia-microcephaly-mental Retardation Syndrome |
| KS | Kallmann Syndrome |
| TCS | Treacher Collins Syndrome |
| SFB | Sanfilippo Syndrome Type B; Saphenofemoral Bypass; Surgical Foreign Body |
| BBS | Bashful Bladder Syndrome |
| PPES | Palmar-plantar Erythrodysesthesia Syndrome |
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