| Metadata | |
|---|---|
| ID | DOID:0080962 |
| Name | anauxetic dysplasia 2 |
| Definition | A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/28067412/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a anauxetic dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |