Mayer-Rokitansky-Kuster-Hauser syndrome type 1

A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.

Mayer-Rokitansky-Kuster-Hauser syndrome type 2

A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.

retinitis pigmentosa Y-linked

A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome.

Y-linked deafness

A nonsyndromic deafness characterized by a Y-lnked inheritance mode.

Y-linked monogenic disease

A monogenic disease that has_material_basis_in mutations on the Y chromosome.

Y-linked deafness 1

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

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.