About   Help   FAQ
Disease Ontology Browser
focal dermal hypoplasia (DOID:2120)
Alliance: disease page
Synonyms: FDH; FODH; Goltz syndrome; Goltz-Gorlin syndrome
Alt IDs: OMIM:305600, MESH:D005489, NCI:C84715, ORDO:2092, UMLS_CUI:C0016395
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.

Disease References using Mouse Models (3)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory