OBO ID: DOID:0111732 |
Term Name: | Eiken syndrome | Search Ontology: | |
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Definition: | A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/6734674 | ||
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Ontology: | Human Disease ( DOID:0111732 ) |
OTHER Eiken syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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