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Namespace Prefixes

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Statements

Subject Item

_:vb50946265

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n4:ECO_0007645

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n4:IAO_0000115

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An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11.

obo:hasDbXref

url:https://pubmed.ncbi.nlm.nih.gov/15316962/ url:https://pubmed.ncbi.nlm.nih.gov/8723097/