|
gptkbp:instance_of
|
gptkb:physicist
|
|
gptkbp:bfsLayer
|
5
|
|
gptkbp:bfsParent
|
gptkb:cleidocranial_dysostosis
|
|
gptkbp:affects
|
bones
teeth
|
|
gptkbp:associated_with
|
hearing loss
scoliosis
facial asymmetry
delayed speech development
|
|
gptkbp:caused_by
|
mutation in the RUN X2 gene
|
|
gptkbp:clinical_trial
|
ongoing
|
|
gptkbp:current_use
|
gptkb:Marfan_syndrome
gptkb:osteogenesis_imperfecta
gptkb:computer
|
|
gptkbp:descendant
|
autosomal dominant
|
|
gptkbp:difficulty
|
varies among individuals
|
|
gptkbp:first_described_by
|
1898
|
|
gptkbp:gender
|
equal in males and females
|
|
gptkbp:genetic_diversity
|
gptkb:stock_market_index
recommended
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
cleidocranial dysplasia
|
|
gptkbp:is_characterized_by
|
wide-set eyes
short stature
delayed closure of fontanelles
underdeveloped or absent collarbones
|
|
gptkbp:is_involved_in
|
gptkb:stock_market_index
|
|
gptkbp:is_known_for
|
gptkb:cleidocranial_dysostosis
|
|
gptkbp:is_popular_in
|
rare
|
|
gptkbp:lifespan
|
gptkb:High_School
|
|
gptkbp:public_awareness
|
gptkb:October
|
|
gptkbp:research_focus
|
genetic mechanisms
long-term outcomes
treatment options
|
|
gptkbp:social_responsibility
|
genetic testing
childhood
clinical examination
|
|
gptkbp:symptoms
|
missing teeth
short neck
abnormalities in the skull
frequent ear infections
narrow chest
protruding forehead
|
|
gptkbp:treatment
|
physical therapy
orthopedic surgery
dental care
|