geleophysic dysplasia 2

Term ID

DOID:0111726

Synonyms

• GPHYSD2

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

References

• OMIM:614185

Ontology

Human Disease   ( DOID:0111726 )