| | Disease name | Disease category |
| FANCM/POF15 | H00238 | Fanconi anemia | Hematologic disease |
| H00627 | Premature ovarian failure | Reproductive system disease |
| SCKL1/FCTS | H00992 | Seckel syndrome | Congenital malformation |
| H02576 | Familial cutaneous telangiectasia and cancer syndrome | Congenital malformation |
| FANCA | H00238 | Fanconi anemia | Hematologic disease |
| FANCB | H00238 | Fanconi anemia | Hematologic disease |
| FANCC | H00238 | Fanconi anemia | Hematologic disease |
| FANCE | H00238 | Fanconi anemia | Hematologic disease |
| FANCF | H00238 | Fanconi anemia | Hematologic disease |
| FANCG | H00238 | Fanconi anemia | Hematologic disease |
| FANCX | H00238 | Fanconi anemia | Hematologic disease |
| FANCL | H00238 | Fanconi anemia | Hematologic disease |
| FANCT | H00238 | Fanconi anemia | Hematologic disease |
| FANCD2 | H00238 | Fanconi anemia | Hematologic disease |
| FANCI | H00238 | Fanconi anemia | Hematologic disease |
| KMIN | H02577 | Karyomegalic interstitial nephritis | Urinary system disease |
| FANCP | H00238 | Fanconi anemia | Hematologic disease |
| XPF/CS/FANCQ | H01428 | Xeroderma pigmentosum | Congenital malformation |
| H00076 | Cockayne syndrome | Neurodegenerative disease |
| H00238 | Fanconi anemia | Hematologic disease |
| COFS4 | H02570 | Cerebro-oculo-facio-skeletal syndrome | Congenital malformation |
| FANCV | H00238 | Fanconi anemia | Hematologic disease |
| BC/PNCA4/BROVCA1/FANCS | H00031 | Breast cancer | Cancer |
| H00019 | Pancreatic cancer | Cancer |
| H02531 | Familial breast-ovarian cancer | Cancer |
| H00238 | Fanconi anemia | Hematologic disease |
| BC | H00031 | Breast cancer | Cancer |
| BC/FANCJ | H00031 | Breast cancer | Cancer |
| H00238 | Fanconi anemia | Hematologic disease |
| BC/PNCA2/BROVCA2/FANCD | H00031 | Breast cancer | Cancer |
| H00019 | Pancreatic cancer | Cancer |
| H02531 | Familial breast-ovarian cancer | Cancer |
| H00238 | Fanconi anemia | Hematologic disease |
| BC/PNCA3/FANCN | H00031 | Breast cancer | Cancer |
| H00019 | Pancreatic cancer | Cancer |
| H00238 | Fanconi anemia | Hematologic disease |
| PFBMFT6 | H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | Hematologic disease |
| ODG11 | H00599 | Ovarian dysgenesis | Reproductive system disease |
| POF10 | H00627 | Premature ovarian failure | Reproductive system disease |
| ODG4 | H00599 | Ovarian dysgenesis | Reproductive system disease |
| FANCW | H00238 | Fanconi anemia | Hematologic disease |
| BC/FANCR | H00031 | Breast cancer | Cancer |
| H00238 | Fanconi anemia | Hematologic disease |
| BROVCA3/FANCO | H02531 | Familial breast-ovarian cancer | Cancer |
| H00238 | Fanconi anemia | Hematologic disease |
| BROVCA4 | H02531 | Familial breast-ovarian cancer | Cancer |
| FANCU/POF17 | H00238 | Fanconi anemia | Hematologic disease |
| H00627 | Premature ovarian failure | Reproductive system disease |