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Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
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Subtype of:
Short stature
Include the contents of this disease's 2 subtypes
in the table below
Show the subtypes
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anoma...
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anoma...
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
MONDO_0031439
MONDO_0030953
BMP2
Causal
19327734
21357617
21671386
29129813
29198724
Open Targets
Cytokine-cytokine receptor interaction
TGF-beta signaling pathway
Hippo signaling pathway
Pathways in cancer
Basal cell carcinoma
Signaling by BMP
Molecules associated with elastic fibres
Transcriptional regulation by RUNX2
+5 more
SCUBE3
Unknown
33308444
Open Targets
Degradation of the extracellular matrix
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
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5
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20p12.3 microdeletion syndrome
1 shared gene
BMP2
Related via 1 shared gene including BMP2.
Right ventricle hypoplasia
1 shared gene
BMP2
Related via 1 shared gene including BMP2.
Short stature, palatal anomalies, congenital heart disease, and skeletal malformations
1 shared gene
BMP2
Related via 1 shared gene including BMP2.
Hfe hemochromatosis, modifier of
1 shared gene
BMP2
Related via 1 shared gene including BMP2.
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
1 shared gene
BMP2
Related via 1 shared gene including BMP2.
1
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