spondyloepiphyseal dysplasia, Holling type Disease Ontology Browser

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spondyloepiphyseal dysplasia, Holling type (DOID:0070825)
Alliance: disease page
Synonyms: SEDH
Alt IDs: OMIM:621345, UMLS_CUI:C6065910
Definition: A spondyloepiphyseal dysplasia characterized by disproportionate short stature and abnormalities of both the axial and appendicular skeleton with epiphyseal anomalies most prominent that has_material_basis_in homozygous mutation in the BNIP1 gene on chromosome 5q35.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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