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epiphyseal dysplasia
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
EIF2AK3
COL2A1
COL9A3
KIF7
ACLS
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
ossification
cartilage development
connective tissue development
HALLMARK_UNFOLDED_PROTEIN_RESPONSE
cellular response to topologically incorrect protein
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Epiphyseal dysplasia
OMIM - Congenital disorder
OMIM - Wolcott-Rallison syndrome
OMIM - Skeletal dysplasia
OMIM - Al-Gazali-Bakalinova syndrome
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Literature
Most Relevant Literature
Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epi…
Spectrum of intra-articular findings of the acute and subacute painful hip with multiple epiphyseal …
Clinical features and treatment of the hip in multiple epiphyseal dysplasia in childhood.
Total hip replacement in patients with multiple epiphyseal dysplasia with a mean follow-up of 15 yea…
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Clinical Trials
Most Relevant Clinical Trials
Comparison Between the Subglotic Diameter and the Epiphyseal Diameter of the Radius in Children for …
Denosumab Treatment for Fibrous Dysplasia
Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease
Periacetabular Osteotomy With and Without Arthroscopic Management of Central Compartment Pathology
Transitional Ankle Fracture Management Using a New Joystick Technique
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