| | 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 |