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anauxetic dysplasia 2
Summary
- Definition
- A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22.
- Super Class
- anauxetic dysplasia autosomal recessive disease
External Links
- Disease Ontology
- DOID:0080962
- Mondo Disease Ontology
- OMIM
