Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Xenbase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.
Summary Literature (0)
DOID:2120 - focal dermal hypoplasia

Disease Ontology 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.

Synonyms: FDH, FODH, Goltz-Gorlin syndrome, Goltz syndrome

Xenbase Genes : porcn

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010592 - focal dermal hypoplasia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a), X-linked monogenic disease (is_a)