Terminology Service < Semantic Lookup Platform

osteogenesis imperfecta type 3

http://purl.obolibrary.org/obo/DOID_0110339

An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Tree view

Term info

Label

osteogenesis imperfecta type 3

Synonyms

OI3
osteogenesis imperfecta type III
progressively deforming osteogenesis imperfecta with normal sclera

database cross reference

has obo namespace

disease_ontology

DOID:0110339

Term relations

Subclass of:

autosomal dominant disease
osteogenesis imperfecta
has material basis in some autosomal dominant inheritance