| Term Name: | anauxetic dysplasia 1 |
|---|---|
| Synonyms: | spondylometaepiphyseal dysplasia, Menger type |
| Definition: | An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. |
| Ontology: | Human Disease [DOID:0050640] ( DOID:0050640 ) |