Statements (65)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:advocacy |
for awareness and research funding
|
| gptkbp:associatedWith |
hearing loss
scoliosis craniofacial abnormalities joint laxity ossification defects |
| gptkbp:causedBy |
mutation_in_the_RUNX2_gene
|
| gptkbp:clinicalTrials |
multidisciplinary approach
developed for management ongoing for new therapies characteristic skull shape clavicular absence |
| gptkbp:community |
increased through events
|
| gptkbp:communityImpact |
can affect self-esteem
may lead to social challenges |
| gptkbp:communitySupport |
online forums
local support groups |
| gptkbp:customizationOptions |
cranial surgery
reconstruction of clavicles |
| gptkbp:demographics |
rare disorder
|
| gptkbp:diseaseResistance |
genetic testing
clinical examination |
| gptkbp:educational_programs |
available for families
medical professionals training |
| gptkbp:family |
considerations for affected individuals
|
| gptkbp:gender |
affects both males and females
|
| gptkbp:geneticDiversity |
recommended for affected families
chromosome 6p21.1 |
| gptkbp:hasService |
based on clinical features
|
| gptkbp:healthcare |
exists for data collection
important for healthcare providers. important for policy changes |
| gptkbp:historicalResearch |
focused_on_RUNX2_gene
|
| gptkbp:hoursOfOperation |
hip dysplasia
knee problems |
| https://www.w3.org/2000/01/rdf-schema#label |
Cleidocranial dysplasia
|
| gptkbp:humanInteraction |
important for patients and families
|
| gptkbp:impact |
skull
bones surgical intervention orthodontic treatment clavicles |
| gptkbp:introduced |
in 1960
|
| gptkbp:legalEvent |
normal with treatment
|
| gptkbp:lengthOverall |
generally positive with management
|
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:notableFeature |
famous individuals with the condition
|
| gptkbp:publicAccess |
increased through advocacy
|
| gptkbp:relatedPatent |
other skeletal dysplasias
|
| gptkbp:research |
ongoing studies
available for at-risk individuals sought for better treatments |
| gptkbp:researchFocus |
clinical trials
gene therapy |
| gptkbp:researchInterest |
with universities and hospitals
|
| gptkbp:services |
regular dental check-ups
orthodontic assessments |
| gptkbp:supports |
available for patients
|
| gptkbp:symptoms |
physical therapy
short stature pain management strategies dental abnormalities delayed closure of fontanelles hypoplastic or absent clavicles |