- Bloom syndrome [DOID:2717]
A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.
- Y-linked deafness 1 [DOID:0111759]
A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life.
- Y-linked deafness 2 [DOID:0111758]
A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2.
- Cockayne syndrome B [DOID:0080908]
A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11.