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Metadata
ID	DOID:0111726
Name	geleophysic dysplasia 2
Definition	A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. https://www.ncbi.nlm.nih.gov/pubmed/21683322
Xrefs	OMIM:614185
Synonyms	GPHYSD2 [EXACT]
Parent Relationships	is_a geleophysic dysplasia is_a autosomal dominant disease