Term Name: focal dermal hypoplasia
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 )

Relationships
is a type of: syndrome X-linked dominant disease