| Metadata | |
|---|---|
| ID | DOID:0050640 |
| Name | anauxetic dysplasia 1 |
| Definition | An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. https://www.ncbi.nlm.nih.gov/books/NBK84550/, https://pubmed.ncbi.nlm.nih.gov/16252239/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
spondylometaepiphyseal dysplasia, Menger type [EXACT] |
| Parent Relationships |
is_a anauxetic dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |