| Term Name: | geleophysic dysplasia 1 |
|---|---|
| Synonyms: | GPHYSD1 |
| Definition: | A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. |
| Ontology: | Human Disease [DOID:0111725] ( DOID:0111725 ) |