"SNOMEDCT_US_2021_09_01:205573006"^^ . "ORDO:2092"^^ . "FDH"@en . . "DOID:2120"^^ . "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23."^^ . . "UMLS_CUI:C0016395"^^ . "MESH:D005489"^^ . "disease_ontology"^^ . _:vb50950520 . _:vb50950520 . _:vb50950520 . . "NCI:C84715"^^ . "Goltz-Gorlin syndrome"@en . . "OMIM:305600"^^ . _:vb50950520 . "OMIM mapping confirmed by DO. [SN]."^^ . . "GARD:6457"^^ . "FODH"@en . "focal dermal hypoplasia"^^ . _:vb50950520 . "Goltz syndrome"@en .