Kw 0986
cv_term_accession
KW-0986
canonical
uniprot_keyword
KW-0986
canonical
name
Amelogenesis imperfecta
uniprot
definition
Protein which, if defective, causes amelogenesis imperfecta, a clinically and genetically heterogeneous group of disorders affecting the dental enamel. The enamel may be hypoplastic, hypomineralized or both, and affected teeth may be discoloured, sensitive or prone to disintegration either pre-eruption or post-eruption. In the hypoplastic type of amelogenesis imperfecta, the enamel is of normal hardness but does not develop to normal thickness. In the hypomineralized type, the enamel is of normal thickness but opaque or yellowish white without lustre on newly erupted teeth; it is so soft that it is lost soon after eruption. Amelogenesis imperfecta occasionally occurs in conjunction with other dental, oral and extra- oral features.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords