Search Ontology:
Human Disease
anauxetic dysplasia 2
- Term ID
- DOID:0080962
- Synonyms
-
- 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/
- References
- Ontology
- Human Disease ( DOID:0080962 )
- is a type of
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