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Summary Literature (0)
DOID:0111726 - geleophysic dysplasia 2

Disease Ontology Definition:A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1.

Synonyms: GPHYSD2

Xenbase Genes : fbn1



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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), geleophysic dysplasia (is_a)