OBO ID: DOID:0111055 |
Term Name: | platelet-type bleeding disorder 20 | Search Ontology: | |
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Synonyms: |
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Definition: | A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. (2) | ||
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Ontology: | Human Disease ( DOID:0111055 ) |
OTHER platelet-type bleeding disorder 20 PAGES
GENES INVOLVED
Human Gene | Zebrafish Ortholog | OMIM Term | OMIM Phenotype ID |
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SLFN14 | Bleeding disorder, platelet-type, 20 |
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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