Term Name: | focal dermal hypoplasia |
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Synonyms: | FDH, FODH, Goltz syndrome, Goltz-Gorlin syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:2120] ( DOID:2120 ) |