focal dermal hypoplasia

Click here to close Hello! We notice that you are using Internet Explorer, which is not supported by Echinobase and may cause the site to display incorrectly. We suggest using a current version of Chrome, FireFox, or Safari.

Echinobase

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: porcn

MIM:

MIM:305600 - focal dermal hypoplasia; fdh

MIM:305600 - focal dermal hypoplasia; fdh

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 dominant disease (is_a), X-linked monogenic disease (is_a)