| Abbreviations | Meaning |
 | MOMO | Macrosomia-obesity-macrocephaly-ocular Abnormalities [syndrome] |
| ORW | Osler-Rendu-Weber (syndrome) |
| MUS | Mouse Urologic Syndrome; Muscinol |
| NFJ | Naegeli-Franceschetti-Jadassohn [syndrome] |
| ODED | Oculo-digito-esophago-duodenal [syndrome] |
| HPNS | High Pressure Neurologic Syndrome |
| ECP | Ectrodactyly-cleft Palate [syndrome] |
| SRO | Sex-ratio Organism; Single Room Occupancy; Smallest Region Of Overlap; Steele-Richardson-Olszewski [syndrome] |
| HHE | Health Hazard Evaluation; Hemiconvulsion-hemiplegia-epilepsy [syndrome]; Hypotonic Hyporesponsive Episode |
| MSC-LSMS | Mid-systolic Click-late Systolic Murmur Syndrome |
| MBS | Marie-Bamberger Syndrome |
| BJ | Bence Jones [protein, Proteinuria]; Biceps Jerk; Bielschowsky-Jansky [syndrome]; Bones And Joints |
| USH3 | Usher Syndrome Type III |
| ESS | Excited Skin Syndrome |
| SCID | Severe Combined Immunodeficiency [syndrome] |
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