Disease Index

autosomal recessive disease characterized by photosensitivity and liver spots (solar lentigines)

autosomal dominant disease characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has material basis in heterozygous mutation in YAP1 on 11q22.1

uveal cancer that has material basis in uvea pigment cells

human disease

syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities

human disease

congenital defect; abnormal or absent vagina

human disease

vaginal cancer that has material basis in epithelial cells

malignant germ cell tumor that involves the vagina

malignant mesenchymal neoplasm with skeletal muscle differentiation arising from the vagina

human disease

genetic skeletal disease

rare genetic disease

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features

syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone

Human disease

human disease

#946;2M) leading to progressive gastrointestinal dysfunction, SjC6gren syndrome (see this term) and autonomic neuropathy

human disease

Human disease

cardiovascular system disease that primarily affects the blood vessels

congenital disease

human disease

human disease

human disease

vascular disease that is characterized by inflammation of the blood vessels

human disease

medical condition