blepharophimosis, ptosis, and epicanthus inversus syndrome +
Brooke-Spiegler syndrome
camptodactyly-tall stature-scoliosis-hearing loss syndrome
chromosome 10q23 deletion syndrome
chromosome 1q41-q42 deletion syndrome +
Colonic Neoplasms +
colorectal adenoma
colorectal cancer +
combined oxidative phosphorylation deficiency 55
congenital nystagmus 1
diaphyseal medullary stenosis with malignant fibrous histiocytoma
distal arthrogryposis type 1C
dopamine transporter deficiency syndrome +
dysplastic nevus syndrome
exudative vitreoretinopathy 4
factor XI deficiency
familial adenomatous polyposis +
An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. (DO)