Frontometaphyseal dysplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
FRONTOMETAPHYSEAL DYSPLASIA
1826C0265293MESH:C538064MONDO:0015942
FLNA Causal
12612583 16596676 16835913 20301567
CTD, Disgenet, HPO, Orphanet
MAP3K7 Unknown
20552513 25418008 27426733 29660408
CTD, Disgenet, GWAS catalog, Orphanet
FRONTOMETAPHYSEAL DYSPLASIA 1
305620C4281559MONDO:0024550
FLNA Causal
12612583 28498505 15523633 16835913 25820619 33834464
ClinVar, Disgenet, HPO
FRONTOMETAPHYSEAL DYSPLASIA 2
617137C4310697MONDO:0014935
MAP3K7 Causal
27426733 27426734
ClinVar, Disgenet, GenCC, HPO
All2 Causal2 Unknown1
Related Diseases Diseases that share the most curated genes with Frontometaphyseal dysplasia.
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Congenital idiopathic intestinal pseudoobstruction 1 shared geneFLNA Related via 1 shared gene including FLNA. Otopalatodigital spectrum disorder 1 shared geneFLNA Related via 1 shared gene including FLNA. Terminal osseous dysplasia with pigmentary defects 1 shared geneFLNA Related via 1 shared gene including FLNA. X-linked ehlers-danlos syndrome 1 shared geneFLNA Related via 1 shared gene including FLNA. X-linked keloid scarring syndrome 1 shared geneFLNA Related via 1 shared gene including FLNA.