Statements (45)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
3
|
| gptkbp:bfsParent |
gptkb:Gaten_Matarazzo
|
| gptkbp:advocates_for |
exist to support research and awareness
|
| gptkbp:affects |
bone development
|
| gptkbp:caused_by |
mutation in the RUN X2 gene
|
| gptkbp:clinical_trial |
ongoing for treatment options
|
| gptkbp:complications |
respiratory issues
dental issues joint problems |
| gptkbp:current_use |
gptkb:Marfan_syndrome
gptkb:osteogenesis_imperfecta gptkb:computer |
| gptkbp:descendant |
autosomal dominant
|
| gptkbp:first_described_by |
Pierre Marie
|
| gptkbp:future_plans |
generally good with treatment
|
| gptkbp:genetic_diversity |
recommended for affected families
recommended for family members |
| gptkbp:habitat |
chromosome 6p21.1
|
| https://www.w3.org/2000/01/rdf-schema#label |
Cleidocranial Dysplasia
|
| gptkbp:impact |
varies by severity
|
| gptkbp:is_a_resource_for |
available for patients and families
|
| gptkbp:is_characterized_by |
short stature
dental abnormalities delayed closure of fontanelles underdeveloped or absent collarbones |
| gptkbp:is_involved_in |
available for patients
|
| gptkbp:is_known_for |
gptkb:cleidocranial_dysostosis
|
| gptkbp:is_popular_in |
rare
|
| gptkbp:population |
can occur in any ethnicity
affects both genders equally |
| gptkbp:premiered_on |
birth
|
| gptkbp:public_awareness |
gptkb:October
|
| gptkbp:publishes |
numerous case studies available
|
| gptkbp:research_areas |
focused on genetic disorders
|
| gptkbp:research_focus |
bone density
RUN X2 gene function craniofacial development |
| gptkbp:social_responsibility |
genetic testing
clinical examination |
| gptkbp:symptoms |
hearing loss
scoliosis facial asymmetry |
| gptkbp:treatment |
gptkb:High_School
surgical intervention |