DISEASES

Disease-gene associations mined from literature

JensenLab

Human genes for campomelic dysplasia

Campomelic dysplasia [DOID:0050463]

An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles.

Synonyms:  campomelic dysplasia,  DOID:0050463,  campomelic dysplasias,  Acampomelic Campomelic Dysplasia,  Acampomelic Campomelic Dysplasias

Linkouts:  OMIM