Focal dermal hypoplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
FOCAL DERMAL HYPOPLASIA
2092305600C0016395MESH:D005489MONDO:0010592
PORCN Causal
17546030 17546031 19586929
CTD, ClinGen, ClinVar, Disgenet, GenCC, HPO, Orphanet
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Focal dermal hypoplasia.
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Colobomatous microphthalmia 1 shared genePORCN Related via 1 shared gene including PORCN. Anophthalmia/microphthalmia-esophageal atresia syndrome 1 shared genePORCN Related via 1 shared gene including PORCN. Microphthalmos 1 shared genePORCN Related via 1 shared gene including PORCN. Microphthalmia 1 shared genePORCN Related via 1 shared gene including PORCN. Global developmental delay 1 shared genePORCN Related via 1 shared gene including PORCN.