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osteochondrodysplasia
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Summary
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
LRP5
SOST
CHST11
MSX2
RUNX2
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
embryonic appendage morphogenesis
limb morphogenesis
ossification
connective tissue development
regulation of ossification
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Curated Studies
Most Correlated Studies
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) study
Mouse Phenotypes - Epiphyseal dysplasia
Mouse Phenotypes - Metabolic disease
Mouse Phenotypes - Albers-Schonberg disease
Mouse Phenotypes - Dwarfism
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Literature
Most Relevant Literature
Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case …
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant.
A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large C…
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders i…
Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.
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Clinical Trials
Most Relevant Clinical Trials
A First-in-human Single and Repeated Dose Escalation Study of SAR442501 in Healthy Adults Subjects
Early Surgical Intervention of Congenital Hemivertebra in Young Children
Morquio's Syndrome: a Case Study
Gait Analysis in MPS IVA
Immunodeficiency in Cartilage-hair Hypoplasia: Sub-project on Safety of Vaccination Against Chickenp…
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