| Abbreviations | Meaning |
 | MBS | Martin-Bell Syndrome; Media Broadband Service |
| MRK | Mayer-Rokitansky-Küster [syndrome] |
| ALDS | Albinism-deafness Syndrome |
| US1C | Usher Syndrome Type IC |
| SPERM | Spastic Paraplegia-epilepsy-mental Retardation [syndrome] |
| SAHS | San Antonio Heart Study; Sleep Apnea-hypersomnolence [syndrome] |
| MMIH | Megacystis-microcolon-intestinal Hypoperistalsis [syndrome] |
| HARD +/- E | Hydrocephalus-agyria-retinal Dysplasia Plus Or Minus Encephalocele [syndrome] |
| TCF | Treacher Collins-Franceschetti [syndrome] |
| USH2B | Usher Syndrome Type IIB |
| CBS | Cervicobrachial Syndrome |
| PALS | Prison-acquired Lymphoproliferative Syndrome |
| IBIDS | Ichthyosis-brittle Hair-impaired Intelligence-decreased Fertility-short Stature [syndrome]; International Bibliographic Information On Dietary Supplements [NIH Database] |
| OASIS | Organization To Assess Strategies For Ischemic Syndromes |
| PLFS | Perilymphatic Fistula Syndrome |
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