| Term Name: | anauxetic dysplasia 2 |
|---|---|
| Synonyms: | |
| Definition: | A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. |
| Ontology: | Human Disease [DOID:0080962] ( DOID:0080962 ) |