| Disorder | Symbol(s) | OMIM | Location |
| 46XY gonadal dysgenesis, complete, CBS2-related, 613080 (3) | CBX2, M33 | 602770 |
17q25 |
| 46XY partial gonadal dysgenesis, with minifascicular neuropathy, 607080 (3) | DHH | 605423 |
12q13.1 |
| 5-fluorouracil toxicity, 274270 (3) | DPYD, DPD | 612779 |
1p22 |
| 6-mercaptopurine sensitivity, 610460 (3) | TPMT | 187680 |
6p22.3 |
| ABCD syndrome, 600501 (3) | EDNRB, HSCR2, ABCDS | 131244 |
13q22 |
| ACAD9 deficiency, 611126 (3) | ACAD9 | 611103 |
3q26 |
| ACAT2 deficiency (1) (?) | ACAT2 | 100678 |
6q25.3-q26 |
| ADULT syndrome, 103285 (3) | TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 | 603273 |
3q27 |
| AGAT deficiency, 612718 (3) | GATM, AGAT | 602360 |
15q15.3 |
| AICA-ribosiduria due to ATIC deficiency, 608688 (3) | ATIC, PURH, AICAR | 601731 |
2q35 |
| ARC syndrome, 208085 (3) | VPS33B | 608552 |
15q26.1 |
| Aarskog-Scott syndrome, 305400 (3) | FGD1, FGDY, AAS | 300546 |
Xp11.21 |
| Abdominal obesity-metabolic syndrome (2) | AOMS1, SYNX | 605552 |
3q27 |
| Abdominal obesity-metabolic syndrome (2) | AOMS2 | 605572 |
17p12 |
| Abetalipoproteinemia, 200100 (3) | MTP | 157147 |
4q22-q24 |
| Acampomelic campomelic dysplasia, 114290 (3) | SOX9, CMD1, SRA1 | 608160 |
17q24.3-q25.1 |
| Acatalasemia (3) | CAT | 115500 |
11p13 |
| Acetabular dysplasia (2) | ACTD | 142700 |
13q22 |
| Acetyl-CoA carboxylase deficiency (1) | ACACA, ACAC, ACC1 | 200350 |
17q21 |
| Achalasia-addisonianism-alacrimia syndrome, 231550 (3) | AAAS, AAA | 605378 |
12q13 |
