OBO ID: DOID:0080962 |
Term Name: | anauxetic dysplasia 2 | Search Ontology: | |
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Synonyms: |
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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 ) |
OTHER anauxetic dysplasia 2 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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