DISEASES

Disease-gene associations mined from literature

Human genes for trichorhinophalangeal syndrome type III

Trichorhinophalangeal syndrome type III [DOID:0080376]

An autosomal dominant disease that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23.

Synonyms:  trichorhinophalangeal syndrome type III,  DOID:0080376,  trichorhinophalangeal syndrome type IIIs,  trichorhinophalangeal syndrome type 3