DNA ligase IV deficiency

A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.

nonsyndromic congenital nail disorder 4

A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13.

acute eustachian salpingitis

A otosalpingitis with a sudden onset and a short course.

acute perichondritis of pinna

A perichondritis of auricle with a sudden onset and a short course.

frontonasal dysplasia

A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak.

cartilage cancer

A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma.

dental abscess

A tooth disease characterized by a localized collection of pus associated with a tooth.

viral meningitis

A meningitis that has_material_basis_in a viral infection.

bacterial meningitis

A meningitis that has_material_basis_in a bacterial infection.

bile duct mucoepidermoid carcinoma

A mucoepidermoid carcinoma located_in a bile duct.