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Rhizomelic chondrodysplasia punctata
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
PKDCC
GNPNAT1
PEX7
AGPS
PEX5
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
peroxisome
establishment of protein localization to peroxisome
peroxisomal membrane
peroxisome organization
protein transmembrane import into intracellular organelle
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Curated Studies
Most Correlated Studies
Mouse Phenotypes - Disorder of peroxisomal function
OMIM - Congenital disorder
OMIM - Skeletal and Integument Related Disorders
OMIM - Skeletal dysplasia
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Literature
Most Relevant Literature
C86Y: as a destructive homozygous mutation deteriorating Pex7p function causing rhizomelic chondrody…
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasi…
An Atypical form Rhizomelic Chondrodysplasia Punctata in a Newborn.
Rhizomelic chondrodysplasia punctata and cardiac pathology.
Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disor…
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Clinical Trials
Most Relevant Clinical Trials
Rhizomelic Chondrodysplasia Punctata Registry
RCDP Natural History Study
Longitudinal Natural History Study of Patients With Peroxisome Biogenesis Disorders (PBD)
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