Term Name: | anauxetic dysplasia 1 |
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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 ) |