Mondo Description Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia resulting in hypotrichosis.
Uniprot Description A disorder clinically characterized by alopecia and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected.
Disease Ontology Description An autosomal dominant disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins.
Mondo Term and Equivalent IDs