Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:bfsLayer |
4
|
| gptkbp:bfsParent |
gptkb:Cleidocranial_Dysplasia
|
| gptkbp:affects |
gptkb:armor
employment opportunities quality of life social interactions academic performance self-esteem bones teeth |
| gptkbp:associated_with |
physical therapy
occupational therapy speech therapy educational needs psychosocial challenges delayed closure of fontanelles |
| gptkbp:can_lead_to |
hearing loss
scoliosis dental crowding facial asymmetry increased risk of fractures |
| gptkbp:caused_by |
mutations in the RUN X2 gene
|
| gptkbp:descendant |
autosomal dominant
|
| gptkbp:first_described_by |
early 20th century
|
| gptkbp:healthcare |
gptkb:battle
|
| https://www.w3.org/2000/01/rdf-schema#label |
cleidocranial dysostosis
|
| gptkbp:is_characterized_by |
underdeveloped or absent clavicles
|
| gptkbp:is_known_for |
gptkb:cleidocranial_dysplasia
|
| gptkbp:is_often_used_in |
all ethnic groups
both sexes |
| gptkbp:is_popular_in |
rare disorder
|
| gptkbp:is_recognized_by |
gptkb:X-rays
CT scans ultrasound MRI scans genetic screening |
| gptkbp:requires |
gptkb:battle
|
| gptkbp:research_focus |
patient outcomes
genetic mechanisms treatment options |
| gptkbp:social_responsibility |
genetic testing
clinical examination congenital disorders other skeletal disorders |
| gptkbp:symptoms |
wide-set eyes
short stature dental abnormalities |
| gptkbp:treatment |
gptkb:High_School
surgical intervention |