Disease-gene associations mined from literature

Human genes for campomelic dysplasia

Campomelic dysplasia [DOID:0050463]

An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.

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

Linkouts:  OMIM