Phenotypes
Db Link Name Definition Comment Is a
HPO HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:probinson] HP:0010674
HPO HP:0001374 Congenital hip dislocation HP:0002827
HPO HP:0000256 Macrocephaly "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium." [PMID:19125436] Macrocephaly can be due to hydrocephalus (increased CFSF), megalencephaly (increased brain volume) or thickening of the skull. Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far above the normal standard the head circumference is if an accurate assessment of this can be made. Macrocephaly is an absolute term. The term relative macrocephaly can be used when the head size centile exceeds the centile for height, for example, head size at the 75th centile with height at the 5th centile for age and sex. HP:0040194
HPO HP:0000703 Dentinogenesis imperfecta "Developmental dysplasia of dentin." [HPO:ibailleulforestier] This term is kept for convenience since it is often used to refer to the phenotype of discolored, fragile teeth in the medical literature. Dentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. HP:0010299, HP:3000050
OMIM OMIM:229200 BRITTLE CORNEA SYNDROME 1; BCS1