| Term Name: | geleophysic dysplasia 2 |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0111726] ( DOID:0111726 ) |