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.

primary cutaneous T-cell non-Hodgkin lymphoma

A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells.

mature T-cell and NK-cell lymphoma

A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells.

immunodeficiency 49

A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.

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.

immunodeficiency 48

A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.

peripheral T-cell lymphoma

A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus.

hepatosplenic T-cell lymphoma

A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type.