| | 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 |
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 |