| | Disease name | Disease category |
| White-Kernohan syndrome | H02560 | White-Kernohan syndrome | Congenital malformation |
| XPE | H01428 | Xeroderma pigmentosum | Congenital malformation |
| XPC | H01428 | Xeroderma pigmentosum | Congenital malformation |
| XPB/CS/TTD2 | H01428 | Xeroderma pigmentosum | Congenital malformation |
| H00076 | Cockayne syndrome | Neurodegenerative disease |
| H00866 | Trichothiodystrophy | Skin disease |
| XPD/TTD1/COFS2 | H01428 | Xeroderma pigmentosum | Congenital malformation |
| H00866 | Trichothiodystrophy | Skin disease |
| H02570 | Cerebro-oculo-facio-skeletal syndrome | Congenital malformation |
| TTD3 | H00866 | Trichothiodystrophy | Skin disease |
| NEDHIB | H02571 | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | Nervous system disease |
| UVSS3 | H02131 | UV-sensitive syndrome | Skin disease |
| CSB/UVSS1/COFS1 | H00076 | Cockayne syndrome | Neurodegenerative disease |
| H02131 | UV-sensitive syndrome | Skin disease |
| H02570 | Cerebro-oculo-facio-skeletal syndrome | Congenital malformation |
| CSA/UVSS2 | H00076 | Cockayne syndrome | Neurodegenerative disease |
| H02131 | UV-sensitive syndrome | Skin disease |
| XPG/CS/COFS3 | H01428 | Xeroderma pigmentosum | Congenital malformation |
| H00076 | Cockayne syndrome | Neurodegenerative disease |
| H02570 | Cerebro-oculo-facio-skeletal syndrome | Congenital malformation |
| XPA | H01428 | Xeroderma pigmentosum | Congenital malformation |
| PFBMFT | H02569 | Pulmonary fibrosis and/or bone marrow failure, telomere-related | 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 |
| ATLD | H02014 | Ataxia-telangiectasia-like syndrome | Immune system disease |
| IMD122 | H00091 | T-B+Severe combined immunodeficiency | Primary immunodeficiency |
| XPV | H01428 | Xeroderma pigmentosum | Congenital malformation |