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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)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory