OBO ID: DOID:0080722 |
Term Name: | Kenny-Caffey syndrome type 1 | Search Ontology: | |
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Definition: | A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. https://pubmed.ncbi.nlm.nih.gov/9806825/ | ||
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Ontology: | Human Disease ( DOID:0080722 ) |
OTHER Kenny-Caffey syndrome type 1 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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