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achondrogenesis
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Genetic Markers
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Most Correlated SNPs
COL2A1
FGFR3
SOX9
SRA1
SLC26A2
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Pathway Enrichment
Most Correlated Biogroups
cell aggregation
ossification
anterior head development
YAMASHITA_LIVER_CANCER_STEM_CELL_UP
MODULE_234
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Achondrogenesis
Mouse Phenotypes - Dwarfism
Mouse Phenotypes - Osteochondrodysplasia
OMIM - Congenital disorder
OMIM - Skeletal dysplasia
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Literature
Most Relevant Literature
New subtype of familial achondrogenesis type IA (Houston-Harris).
The phenotype range of achondrogenesis 1A.
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achond…
Pathologic diagnosis of achondrogenesis type 2 in a fragmented fetus: case report and evidence-based…
Pathogenic variants in the TRIP11 gene cause a skeletal dysplasia spectrum from odontochondrodysplas…
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Clinical Trials
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Study of Skeletal Disorders and Short Stature
The Hoosier Moms Cohort
OsseoFix™ Spinal Fracture Reduction System in Treating Spinal Compression Fracture
Pakistan Flocculent Health Outcome Study
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