DISEASES

Disease-gene associations mined from literature

Human genes for trichorhinophalangeal syndrome type I

Trichorhinophalangeal syndrome type I [DOID:14743]

An autosomal dominant disease that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).

Synonyms:  trichorhinophalangeal syndrome type I,  DOID:14743,  trichorhinophalangeal syndrome type Is,  trichorhinophalangeal syndrome type 1,  type I trichorhinophalangeal syndrome ...

Linkouts:  OMIM