osteogenesis imperfecta

GPTKB entity

Statements (51)
Predicate Object
gptkbp:instance_of gptkb:Genetics
gptkbp:affects mental health
quality of life
collagen production
gptkbp:can_cause hearing loss
dental issues
gptkbp:can_detect ultrasound in utero
gptkbp:can_lead_to bone deformities
gptkbp:can_result_in chronic pain
gptkbp:cause brittle bones
gptkbp:complications pregnancy
gptkbp:diagnosis genetic testing
clinical evaluation
gptkbp:difficulty_levels gptkb:Type_II
gptkbp:first_described_by gptkb:Hippocrates
gptkbp:has_a_focus_on clinical trials
gptkbp:has_achieved scoliosis
gptkbp:has_type gptkb:Type_I
gptkb:Type_II
gptkb:Type_III
Type IV
https://www.w3.org/2000/01/rdf-schema#label osteogenesis imperfecta
gptkbp:included genetic counseling discussions
gptkbp:inherits_from autosomal dominant inheritance
gptkbp:is_a_lifelong_condition nan
gptkbp:is_a_subject_of patient advocacy
gptkbp:is_affected_by lack of physical activity
gptkbp:is_associated_with cardiovascular issues
short stature
increased risk of fractures
blue sclera
gptkbp:is_characterized_by variable severity
frequent fractures
gptkbp:is_linked_to_mutations_in gptkb:COL1_A1_gene
gptkb:COL1_A2_gene
gptkbp:is_managed_by bisphosphonates
orthopedic specialists
gptkbp:is_monitored_by regular check-ups
gptkbp:is_often_seen_in all ethnic groups
other bone disorders
gptkbp:is_recognized_by medical professionals worldwide
gptkbp:is_studied_in medical genetics
gptkbp:known_as brittle bone disease
gptkbp:requires_multidisciplinary_care nan
gptkbp:research new therapies
gptkbp:scientific_classification four main types
gptkbp:treatment gptkb:surgery
medications
physical therapy
gptkbp:bfsParent gptkb:Henri_de_Toulouse-Lautrec
gptkbp:bfsLayer 4