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Congenital camptodactyly
Congenital camptodactyly
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
CONGENITAL CAMPTODACTYLY
C0685409
MED13L
Unknown
—
Disgenet
Thyroid hormone signaling pathway
PPARA activates gene expression
Transcriptional regulation of white adipocyte differentiation
PLOD2
Unknown
—
Disgenet
Lysine degradation
Metabolic pathways
Collagen biosynthesis and modifying enzymes
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
2
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
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Cardiac anomalies - developmental delay - facial dysmorphism syndrome
1 shared gene
MED13L
Related via 1 shared gene including MED13L.
Developmental delay with facial dysmorphism syndrome
1 shared gene
MED13L
Related via 1 shared gene including MED13L.
Bowed long bones
1 shared gene
PLOD2
Related via 1 shared gene including PLOD2.
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1 shared gene
PLOD2
Related via 1 shared gene including PLOD2.
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1 shared gene
PLOD2
Related via 1 shared gene including PLOD2.
1
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