Phenotypes
Db Link Name Definition Comment Is a
HPO HP:0000704 Periodontitis "Inflammation of the periodontium." [HPO:ibailleulforestier] HP:0000164, HP:0000168, HP:0012649
HPO HP:0001034 Hypermelanotic macule "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [DDD:cmoss] HP:0007400, HP:0012733
HPO HP:0006323 Premature loss of primary teeth "Loss of the primary (also known as deciduous) teeth before the usual age." [HPO:sdoelken] The primary teeth are usually shed and replaced by the permanent teeth, usually by the age of six years. With premature loss of primary teeth, there is a delay between the loss of the primary teeth and the eruption of the permanent teeth. HP:0006480, HP:0006481
OMIM OMIM:613783 COMPLEMENT COMPONENT C1s DEFICIENCY; C1SD
OMIM OMIM:617174 EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2