Visualize Submit Comment

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	MIM:614185
Synonyms	GPHYSD2 [EXACT]
Parent Relationships	is_a autosomal dominant disease is_a geleophysic dysplasia
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance